Genetics in Medicine (2022) 24, 2167–2179

www.journals.elsevier.com/genetics-in-medicine

EDUCATION REPORT
2022 Association of Professors of Human and Medical
Genetics (APHMG) consensus–based update of the
core competencies for undergraduate medical
education in genetics and genomics
Lauren J. Massingham1,2 , Sabrina Nuñez3, Jonathan A. Bernstein4, David P. Gardner5,
Aditi Shah Parikh6, Erin T. Strovel7, Fabiola Quintero-Rivera8,*; on behalf of the Association
of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical
Education Core Curriculum Workgroup

ARTICLE INFO ABSTRACT

Article history: Purpose: The field of genetics and genomics continues to expand at an unprecedented pace. As
Received 14 April 2022 scientific knowledge is translated to clinical practice, genomic information is routinely being
Received in revised form used in preventive, diagnostic, and therapeutic decision-making across a variety of clinical
13 July 2022 practice areas. As adoption of genomic medicine further evolves, health professionals will be
Accepted 17 July 2022 required to stay abreast of new genetic discoveries and technologies and implementation of
Available online 31 August 2022 these advances within their scope of practice will be indicated.
Methods: The Association of Professors of Human and Medical Genetics previously developed
Keywords: medical school genetics core competencies, last updated in 2013. The competencies were
Competencies reviewed and updated through a structured approach incorporating a modified Delphi method.
Curriculum Results: The updated Association of Professors of Human and Medical Genetics core compe-
Education tencies are presented. Current revisions include competencies that are concise, specific, and
Medical School assessable. In addition, they incorporate recent advances in clinical practice and promote equity
Medical Genetics and inclusion in clinical care.
Conclusion: The 2022 competencies will serve as a guide for medical school leadership and
educators involved in curriculum development, implementation, and assessment. Use of these
competencies across the undergraduate medical curricula will foster knowledge, skills, and
behaviors required in medical practice across a wide range of specialties.
© 2022 American College of Medical Genetics and Genomics.
Published by Elsevier Inc. All rights reserved.

*
Correspondence and request for materials should be addressed to Fabiola Quintero-Rivera, UCI Medical Center, 101 The City Dr S, Building 54, Suite
1200, Orange, CA 92868. E-mail address: fabiolaq@hs.uci.edu
Affiliations are at the end of the document.

doi: https://doi.org/10.1016/j.gim.2022.07.014
1098-3600/© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
2168
Introduction
Medical school supports physicians in training by devel-
oping the foundation of knowledge, skills, and behaviors
essential for transition into residency and, eventually, in-
dependent practice. Medical education is continually
adapting to reflect new developments and discoveries.
During the 20th century, the integration of scientific ad-
vancements into the medical education curricula was a
major contributor to the doubling of the typical life expec-
tancy.1 Because many of these advances are grounded in
genetic advances, updating the medical genetics curriculum
periodically is necessary to ensure future physicians to have
the tools to provide the best care for their patients.
The Association of Professors of Human and Medical
Genetics (APHMG) was established in 1995 to foster
collaboration in the field of genetics in service of medical
and graduate education. The APHMG Course Directors
Special Interest Group (CD-SIG) is a committee of this
organization specifically focused on undergraduate medical
education. The APHMG developed medical student genetics
curriculum guidelines in 1998 that were last revised in
2013.2,3 In the interim, several other groups have published
genetics competencies for health professionals and medical
students.4-8 Recognizing the need for updated curriculum
guidelines for medical education, the CD-SIG committee
formed a workgroup, Medical Education Core Curriculum
Workgroup (MECCW), in 2019 to update the APHMG
medical student genetics curriculum guidelines.
Over the last 2 decades, public demand for accountability
has driven health professions to adopt competency-based
education. This paradigm shift encouraged attention to ed-
ucation outcomes rather than focusing on the structure and
process aspects of education. Assessment systems were
developed to gather evidence of competence, including data
points related to knowledge, skills, and behavior that a
program identified as key competencies for their trainees. In
1999, the Accreditation Council for Graduate Medical Ed-
ucation (ACGME) and the American Board of Medical
Specialties developed 6 core educational competency do-
mains for evaluating the ability and proficiency of US
medical residents and residency programs.9 These core
competency domains are medical knowledge, patient care,
practice-based learning and improvement, interpersonal and
communication skills, professionalism, and systems-based
practice, and they serve as the foundation of ACGME’s
accreditation model.9 Programs are responsible for identi-
fying specific skills, knowledge, and behavior related to
each of these competency domains and incorporating
learning opportunities for them. In conjunction with mile-
stones, they are designed to monitor and improve educa-
tional outcomes and, by extension, clinical outcomes at the
level of the individual learner and the program. The 2013,
APHMG competencies used the ACGME 6 core compe-
tencies as a framework. Since then, most US medical
schools have modeled their program objectives after the
L.J. Massingham et al.
Physician Competency Reference Set.10 This competency
framework is derived from the ACGME/American Board of
Medical Specialties competency framework and relies on
the same 6 competency domains plus 2 new domains
(interprofessional collaboration and personal and profes-
sional development). For the 2022 APHMG competencies,
we chose to continue using the ACGME 6 core competency
domains as our framework to align with the competency-
based education framework that continues the training
continuum (undergraduate medical education, graduate
medical education, and independent practice).
During the current update to the APHMG competencies,
there were multiple areas of focus, including ensuring
competencies reflect scientific advancements, align with
current practice, articulate the highest level of performance
expected for a medical student, are written as measurable
outcomes, and actively contribute to eliminating health
disparities.
First, consideration of the competencies content was
reviewed for accuracy and timeliness. As advancements in
the rapidly expanding field of genetics continue, genetic and
genomic literacy is becoming increasingly relevant across
all medical specialties.11-14 Our understanding of the
contribution of genetic variants to disease continues to grow
exponentially, and new molecular techniques have allowed
for testing methods that are more sensitive, broader, less
costly, and faster than ever before.15,16 These advancements
have made genetic/genomic testing more accessible and
clinically useful. Patients benefit from a molecular diagnosis
because the results provide a better understanding of the
disease mechanisms, may provide surgical, therapeutic or
surveillance options, and can influence medication choices
(ie, personalized medicine).17-20 In turn, family members
also benefit because identifying a familial variant allows for
cascade testing of at-risk family members.21 Thus, as health
care professionals across disciplines embrace the use of
genomic data to improve disease diagnosis, treatment, and
prevention, it is essential that we continue to update genetic
competencies, ensuring that they reflect the relevant
knowledge, skills, and behaviors necessary to provide the
best standard of care.
Attention to competency updates promoting higher
learning was completed to encourage more critical thinking
and improve long term retention. Many educators are
familiar with the use of Bloom’s taxonomy in the devel-
opment of SMART (specific, measurable, attainable, rele-
vant, time-bound) learning objectives.22,23 Bloom’s
taxonomy is a classification system that incorporates 6 cat-
egories of cognitive skills ranging from lower-order skills
that require less cognitive processing (remembering) to
higher-order skills that require deeper understanding and a
greater degree of cognitive processing (applying, analyzing,
evaluating).24,25 Learning objectives that address compre-
hension help learners apply their knowledge and further
synthesize and evaluate information more effectively (ie,
metacognition). We revised action verbs for the
L.J. Massingham et al. 2169

competencies in alignment with Bloom’s taxonomy. In

addition, we considered the context in which the evaluation
for each competency would be conducted, aiming to artic-
ulate the highest level of performance that a medical student
should have for each competency. This approach was in
alignment with Miller's pyramid, an assessment framework
in medical education.23,26 The pyramid calls out 4 levels:
“knows,” “knows how,” “shows how,” “does,” with each
level requiring different assessment approaches. Knowledge
measurement can be assessed through exams, case pre-
sentations can allow for knowledge application, and simu-
lations can demonstrate learning. The “does” portion is
harder to assess, therefore, in this update, we attempted to
call out the activities that any medical student would need to
perform in the service of patients, regardless of the specialty.
Throughout the competency review process, we priori-
tized competencies that promote more equitable health
care.27,28 Health equity has been defined in a variety of ways
but most definitions center around the reduction and ulti-
mately elimination of disparities in health and in de-
terminants of health that adversely affect individuals of
historically excluded groups.29-31 Achieving health equity
requires societal action to remove obstacles and increase
opportunities.29 One positive step that educators can take as
a societal action regarding genetics education is highlighting
disparities and attempting to minimize or eliminate them in
the medical education curricula. A tool has been published
to assess harmful vs productive actions in consideration of
inequities.30 More productive actions include acknowl-
edging the root cause of inequity, illuminating why an ac-
tion occurred that explains the root cause of the inequity,
and finally disrupting the root causes that lead to the ineq-
uity.30 In this context, as the competencies were being
updated, a focused effort was made to include statements
promoting awareness of diversity, equity, and inclusivity
leveraging all 3 of these productive actions (acknowledge,
illuminate, and disrupt).
The APHMG CD-SIG MECCW reviewed and updated Figure 1 Workflow of the steps for the development of the
the core competencies. An emphasis was placed on ensuring core curriculum and the modified Delphi process. APHMG,
that the competencies reflect contemporary clinical practice, Association of Professors of Human and Medical Genetics; CD-
the effective use of Bloom’s taxonomy to describe specific SIG, Course Directors Special Interest Group; MECCW, Medical
and assessable learning objectives and, including goals that Education Core Curriculum Workgroup.
promote inclusion and equity. This update was completed
through the structured engagement of professionals involved ACGME core competencies in 2013.2,3 The first step in this
in genetics education through small group discussions and a process involved establishing a methodology to be used for
modified Delphi process. The updated medical school ge- the update. Figure 1 is a flowchart that depicts the steps
netics core competencies will guide the training of the next taken to update the core competencies. The process was
generation of physicians to foster greater confidence and initiated during the 2019 in-person APHMG annual meeting
more refined skills in the domain of genetics. CD-SIG session. During this session, 23 attendees worked
in groups of 2 to 3 to perform a review of the competencies.
Each group was assigned a subset of the competencies and
Materials and Methods were instructed to assess whether changes were needed
(keep, update, or delete). A keep vote indicated that the
The updated 2022 core competencies began with a review of group felt that the competency was still relevant in a
the APHMG core competencies that were initially devel- contemporary medical school curriculum. An update vote
oped in 1998 and updated and categorized according to indicated that the group felt that there were still relevant
2170
elements, but with the advancements in the field of genetics
and genetic testing, updates are indicated. A delete vote
indicated that the previous competency was deemed obso-
lete and no longer a core component of genetics education.
Groups had the option to provide narrative comments to
explain their rationale.
After the 2019 meeting, the APHMG CD-SIG MECCW
was formed from volunteer CD-SIG members. All work-
group members are involved in teaching genetics at their
respective medical schools. The 25 members of the CD-SIG
MECCW were divided into 4 subgroups of 6 to 7 partici-
pants. Groups were assigned portions of the competencies
and were provided the recommended changes collected
during the 2019 workshop. Each group conducted an in-
depth review of their assigned competencies and the feed-
back gathered during the workshop to produce their pro-
posed updates.
The CD-SIG Executive Committee (L.J.M., S.N., J.A.B.,
D.P.G., A.S.P., E.T.S., F.Q.-R.) compiled and reviewed the
CD-SIG MECCW recommendations and developed a draft
of all updated competencies, which was used to initiate the
modified Delphi rounds. The modified Delphi was used as a
method to garner balanced, anonymized opinions in an
efficient manner from the members. The Delphi method was
developed in the 1950s by the Rand Corporation.32 It is a
social science technique used in qualitative research to con-
sult experts on a specific subject via serial rounds of ques-
tionnaires. After each round of data collection, a new set of
questions is generated and a new report is created. This
process is performed until a consensus is reached.32 This
approach is often used in health care research and education
to identify competencies that professionals should acquire on
the basis of expert judgment.6,33-35 Invitations to participate
in this process were sent to the APHMG CD-SIG MECCW
for review rounds 1 and 2 via email. This invitation included
a description of the study and a survey (Qualtrics). Responses
were collected anonymously. APHMG CD-SIG MECCW
participants could suggest edits or additions and propose new
competencies. To maximize the response rate, 3 reminders
were sent by email during the 3-week period the survey was
open. The survey was divided into 2 main sections. The first
section had demographic information, including age, self-
reported gender, professional qualifications (highest de-
gree), years of work, and teaching experience in genetics.
The second section required the participants to provide
feedback regarding each of the proposed competencies,
which included both the updated and the previous 2013
versions and the rationale for the change. Each participant
was asked to “agree,” “agree with minor edits,” or “disagree”
each competency and was given the opportunity to add edits
or comments.
The survey responses were reviewed by the CD-SIG
committee. If there were no changes or minor changes
(such as simple wording changes in which the overall
meaning remained the same), the competency was approved
and was not further reviewed. If significant changes, clari-
fications, or suggestions for changes were proposed, the
L.J. Massingham et al.
CD-SIG committee drafted a revised competency, to be
submitted for a second review. The second review was also
conducted through a Qualtrics survey that was designed
similarly to the first. Itincluded the competency wording of
the first Delphi review, the proposed updated wording for
the second review, and the rationale for the change. Par-
ticipants were asked to vote for either the first-review
wording or the second-review wording and were given the
opportunity to make further comments if desired. Agree-
ment was reached after the second round of review and the
CD-SIG committee incorporated comments to produce an
updated set of competencies.
After the modified Delphi method, the updated compe-
tencies were submitted to the APHMG Council for approval.
The APHMG Council reviewed the document and submitted
their comments. Subsequently, an email invitation was sent
to the full APHMG membership (225 members), inviting
them to provide feedback. Members received an email,
including a brief description of the project, access to the
updated competencies, and instructions for submitting com-
ments via Qualtrics survey. The survey remained open for 3
weeks. The CD-SIG committee reviewed the collected
feedback and drafted an additional competency. This addi-
tional competency was sent to the APHMG membership for
comment via a Qualtrics survey that was open for 1 week.
The finalized version was approved by the APHMG Council.
Results
Participants in the consensus process
A total of 25 professionals involved with medical genetics
education and members of APHMG CD-SIG MECCW
participated in the small group sessions to update an
assigned set of competencies. These individuals were then
invited to participate in the modified Delphi review process.
In total, 18 (72%) individuals participated in the first and
second rounds. Most of these professionals were female
(83%) and the mean age of participants was between 50 and
60 years. Most participants hold doctoral degrees (MD/DO
33% or PhD 56%). Typically, the professional’s primary job
was medical education with a mean of 14 years teaching
experience. Individuals whose primary job was clinical ge-
netics (genetic counselors and medical geneticists) also
participated. Many of the medical genetics educators who
participated in this effort have also held other roles in
medical education such as other discipline (biochemistry)
teachers, curriculum committee chairs and members, and
Dean of curriculum appointments. Full details of MECCW
demographic information are provided in Table 1.
Quantitative and qualitative analysis
The genetics competencies were organized according to the 6
ACGME core competencies framework. Two of the
L.J. Massingham et al. 2171

Table 1 Demographic information of first modified Delphi review competencies and 16 section goals for a total of 99 elements.
MECCW respondents (n = 18) There was a high acceptance rate across all the new core
Demographics n (%) competency elements (mean 82%, range 61%-100%).
Age range, y Disagreement with the newly suggested competency was low
30-39 2 (11) (mean 2%, range 0%-17%). In 16% of the elements, minor
40-49 7 (39) edits were suggested (range 0%-39%). Table 2 depicts the
50-59 5 (28) mean acceptance rate for the first Delphi review round (the
60-69 4 (22) APHMG CD-SIG MECCW members selected “approve” or
Gender “approve with minor edits”) for each of the categories and the
Male 3 (17) subcategories.
Female 15 (83) After the first Delphi review, the CD-SIG committee
Nonbinary 0 (0) reviewed the edits/suggestions. Most of the competencies
Highest degree
were accepted. The competencies that were reworded
Masters 1 (6)
significantly, to the extent that it had a different meaning or
MD/DO 6 (33)
PhD 12 (56) other significant clarifications, were sent back for a second
Other (including dual degree) 1 (6) Delphi review. Two new competencies and 12 modified
Years involved in teaching genetics, 14 (6-35) competencies were introduced in the second review. The
mean (range) acceptance rate of the second review of edited elements was
Primary job role (17 answers) high (mean 95%, range 83%-100%).
Clinical laboratory 3 (18) After the second modified Delphi review, the CD-SIG
Clinical genetics 5 (29) committee completed another review and made edits
Medical education 8 (47) based on the comments. The APHMG Council reviewed the
Research 1 (6) draft and provided comments. The document was then
MECCW, Medical Education Core Curriculum Workgroup. circulated to the entire APHMG membership for a 3-week
comment period. Membership comments included 35 mi-
categories were subdivided further for ease of reference. The nor comments and 3 major comments from 6 members. An
medical knowledge category comprises 7 subcategories and additional competency was subsequently developed based
the patient care category comprises 5 subcategories (Table 2). on the feedback. The newly drafted competency was sub-
Each category (or each subcategory for medical knowledge mitted to the entire APHMG membership (N = 225) via a
and patient care) includes a section goal and individual third Delphi review. A total of 74 individuals of the
competencies. For the first Delphi review, there were 83 APHMG membership participated in the third round with an

Table 2 Comparison between the number of section goals and competencies in 2013 vs 2022 core competencies
First Round Modified Delphi:
Core Competenciesa 2013 Version 2022 Version Acceptance Rate by Category/Subcategoryb
Medical knowledge 55 43
Genome organization/gene regulation 8 5 96%
Genetic variation 14 8 97%
Population genetics 5 5 99%
Inheritance 8 7 99%
Cytogenetics and molecular genetics 8 7 98%
Biochemical genetics 5 4 99%
Cancer genetics 7 7 97%
Patient care 38 30
Medical genetics/inheritance 9 5 97%
Genetics and genomic testing 12 9 98%
Cancer genetics 4 4 100%
Reproductive and prenatal 7 6 99%
Treatment and management 6 6 99%
Practice-based learning and improvement 3 2 98%
Interpersonal and communication skills 5 8 97%
Professionalism 7 4 96%
Systems-based practice 6 4 100%
Total 114 (16 section goals, 91 (16 section goals,
98 competencies) 75 competencies)
a
ACGME core competencies are in bold. Genetics-specific categories can be found as subheadings under the appropriate ACGME core competency heading.
b
These acceptance rates do not include competencies added in the second or third review rounds.
2172 L.J. Massingham et al.

Box 1. Medical knowledge

Genome organization/gene regulation

Section goal: Apply knowledge of the structure and function of the human genome, including genetic and epigenetic mechanisms, to
explain how changes in gene expression influence disease onset and severity.
1. Compare and contrast the organization of the nuclear and mitochondrial genome, including approximate number of
nuclear and mitochondrial genes, how nuclear DNA is packaged into chromatin and the process of replication.
2. Describe the process and regulation of gene expression, including the steps of transcription and translation, the impact of
gene structure, and the role of regulatory factors, eg, transcription factors, chromatin modifiers, and noncoding RNAs.
3. Explain how genetic variation, in coding and noncoding regions of the genome, influences gene expression and can result in
disease.
4. Describe the concept of epigenetics and explain the role of epigenetic mechanisms in the regulation of gene expression and
how it can influence disease. Recognize that some epigenetic modifications can change over time.
Genetic variation
Section goal: Apply knowledge of genetic/genomic variation to explain differences in phenotypic expression, disease phenotypes, and
treatment options.
1. Describe the types and extent of variation seen in the human genome, including both sequence and structural variation in
coding and noncoding sequences.
2. Describe how allelic variation contributes to both normal and pathogenic phenotypic spectrum. Distinguish between rare
variants and common polymorphisms.
3. Describe the ways in which variants occurring within coding regions of the genome affect encoded products (eg, missense
[nonsynonymous], nonsense, silent [synonymous], frameshift, and aberrant splicing).
4. Describe the mechanisms by which changes in proteins result in disease. Examples include but are not limited to dominant
negative, loss-of-function, gain-of-function, and haploinsufficiency.
5. Describe the spectrum of genetic liability, from monogenic disorders predominantly caused by single genes with large
effect sizes to multifactorial/polygenic disorders caused by genetic and environmental factors with smaller effect sizes.
6. Define pharmacogenetics/genomics and explain how the variants in genes involved in drug transport and metabolism
contribute to variability in drug response.
7. Describe the principles of genome-wide association studies and how they are used to identify correlations between
genomic regions and disease susceptibility. Explain the strengths and limitations of this approach.
Population genetics
Section goal: Apply concepts of population genetics to explain why allele frequencies vary between human ancestral populations and how
it can be used to calculate an estimated predictive disease risk.
1. Compare and contrast genetic and geographic ancestry with the social constructs of race and ethnicity. Give examples of
situations in which race, ethnicity, and ancestry correlate with different genetic and environmental risk factors for disease.
Explain how these situations may contribute to incorrect inferences about health in individuals and groups.
2. Explain how concepts of population genetics (including population bottlenecks, founder effects, and natural selection)
contribute to allele frequency differences across populations. Discuss how these concepts can alter allele frequencies in the
population, leading to increased risk in specific populations.
3. Calculate the estimated genotype frequencies within a population using the Hardy-Weinberg equation and describe how
they can be used to predict genetic disease risk and carrier status.
4. Explain how the overrepresentation of individuals of European ancestry in research studies and genetic variation databases
limits the transferability of these data to people from other ancestral backgrounds. Recognize the limitations and potential
harms of making assumptions about an individual based on perceived ancestry and average population risk.
Inheritance
Section goal: Apply the basic principles of monogenic and multifactorial inheritance to interpret a family history, estimate disease risk,
and explain phenotypic variation.
1. Describe the characteristic features of monogenic inheritance patterns: autosomal dominant, autosomal recessive, X-linked
(including manifesting carrier/skewed X-inactivation patterns), and Y-linked.
2. Explain the concept of genotype–phenotype correlation and how factors such as reduced penetrance (including age-
dependent penetrance), variable expressivity, genetic heterogeneity (locus and allelic), pleiotropy, modifier genes, de novo
pathogenic variants, and environmental factors affect the phenotypic expression of a disease and the observed pattern of
inheritance.
3. Describe how mitotic errors result in mosaicism and explain how it affects the phenotypic expression of genomic
disorders.
(continued)
L.J. Massingham et al. 2173

Box 1. Continued
4. Describe the underlying genetic mechanisms of non-Mendelian inheritance patterns: mitochondrial, somatic and germline
mosaicism, uniparental disomy, parent of origin (epigenetic and genomic imprinting), and repeat expansion disorders.
Explain how these phenomena affect phenotype and recurrence risk.
5. Describe the concepts of mitochondrial inheritance (mitochondrial DNA), heteroplasmy, and the threshold effect in
mitochondrial disorders.
6. Explain the principles of multifactorial inheritance of normal human traits and polygenic disorders.
Cytogenetics and molecular genetics
Section goal: Apply knowledge of cytogenetics and molecular genetics to recognize uses and limitations of genetic testing technologies.
1. Describe the structure and function of chromosomes. Compare and contrast their segregation in mitosis and meiosis.
2. Describe the basic principles of molecular and cytogenetic nomenclature used to report G-banded karyotype, fluorescence
in situ hybridization (FISH), chromosomal microarray analysis (CMA), and sequencing results.
3. Describe the types of structural variation seen in chromosomes (eg, translocations, inversions, deletions, duplications,
copy number variants, etc). Use the presence of a structural variant to explain an individual’s risk for a syndrome, reduced
fertility, or spontaneous abortion.
4. Contrast the uses and limitations of cytogenetic techniques that detect aneuploidy and structural variation including G-
banded karyotype, CMA, and FISH.
5. Contrast the uses and limitations of molecular techniques that detect nucleotide variants, including Sanger sequencing for
single genes, next-generation sequencing for multigene, exome, and genome analyses.
6. Contrast the uses and limitations of molecular techniques that detect nucleotide repeat expansions or alternative
methylation patterns affecting the epigenome. Examples include polymerase chain reaction (PCR) of repetitive sequences,
Southern blot, array-based methylation, methylation-sensitive PCR, and bisulfite sequencing.
Biochemical genetics
Section goal: Apply knowledge of biochemical pathways and genetic principles to explain the etiology, pathogenesis, diagnostic
modalities, and rationale for management of metabolic disorders.
1. Explain how an inborn error of metabolism (error of enzyme or transport pathway) can result in toxic accumulation of
substrates and/or deficiencies of products. Recognize that these are typically recessive conditions where heterozygotes
have sufficient function and do not manifest disease.
2. Describe the genetic etiology, pathophysiology, and common clinical presentation of inborn errors of metabolism
including amino acid disorders, urea cycle defects, lysosomal storage disorders, fatty acid oxidation defects, organic
acidurias, carbohydrate metabolism and storage disorders, and nucleotide metabolism disorders.
3. Discuss the rationale for current approaches to manage metabolic disorders including dietary therapy, enzyme replacement
therapy, substrate reduction therapy, alternative pathway excretion, avoidance of fasting, and gene therapy.
Cancer genetics
Section goal: Apply knowledge of genetics/genomics to explain the etiology, pathogenesis, diagnostic modalities, and rationale for
treatment of cancer.
1. Describe the multistep model of cancer pathogenesis and the role that DNA repair, proto-oncogenic, and tumor suppressor
genes play in this model.
2. Recognize the types of genetic and epigenetic changes that can result in gain-of-function of proto-oncogenes or loss-of-
function of tumor suppressor genes (eg, Knudson two-hit hypothesis).
3. Explain how cancer is multifactorial in nature and describe the role of different risk factors in cancer development,
including germline (high, moderate, and low penetrance) pathogenic variants, familial predisposition, environmental
factors (smoking, alcohol, diet, estrogen exposure, radiation/UV light), and chance (ie, sporadic).
4. Explain why germline pathogenic variants associated with hereditary cancer predisposition syndromes are often
characterized by earlier onset of cancer, increased risk of multiple cancers in a single individual, and patterns of specific
cancers in a family.
5. Describe the application of current somatic/tumor and germline testing (cytogenetic, molecular, and epigenetic
technologies) to clarify the mechanism of tumorigenesis, evolution, diagnosis, and prognosis of cancer.
6. Describe how genetic testing of the tumor and/or germline can lead to individualized and targeted cancer therapies
(precision medicine), and/or long term follow up. Explain the mechanisms of action of these therapies (eg, inhibitors of
PARP, PD-1/PD-L1, IDH1/2, tyrosine kinases).

acceptance rate of 92% (“agree” or “agree with minor
edits”).
Overall, the completed project includes 91 elements (16
section goals and 75 competencies). Table 2 shows a
comparison between the number of competencies and
section goals for each core category in 2013 and 2022. The
complete list of the medical knowledge and patient care
updated competencies is included in Box 1 and Box 2,
respectively. Updated competencies for interpersonal and
communications skills, practice-based learning and
2174 L.J. Massingham et al.

Box 2. Patient care

Medical genetics/inheritance
Section goal: Demonstrate the ability to gather family history, construct and interpret a family pedigree, assess risk for a genetic disorder,
and determine when a clinical genetics evaluation is appropriate.
1. Explain the rationale for referring a patient for a clinical genetic evaluation based upon medical history and physical exam
findings that may include congenital anomalies, neurodevelopmental phenotype, unusual physical features or stature,
multisystemic disease, early onset, bilateral or atypical disease, and multiple miscarriages or reproductive failure.
2. Use the family history to evaluate indicators for clinical genetics referral, including multiple affected family members with
the same or significantly overlapping clinical presentation, for example: physical findings, developmental delay/intel
lectual disabilities, clustering of cancers, multiple miscarriages, fetal or early childhood deaths, or sudden cardiac death.
3. Use a family history to construct a 3-generation pedigree and interpret for possible mode(s) of inheritance (Mendelian,
multifactorial, and mitochondrial) and assessment of associated recurrence risks. Apply the most up-to-date guidelines to
document family history using inclusive practices to indicate gender identity, family structure, use of assisted-reproduction
technologies, and/or adoption.
4. Recognize that congenital anomalies may have intrinsic or extrinsic causes, may occur in isolation or part of a pattern, and
that these anomalies (malformation, deformation, and disruption) may be part of a syndrome, sequence, and association.
Genetics and genomic testing
Section goal: Identify appropriate indications for genetic and genomic testing for diagnostic and screening purposes. Recognize the
implications and limitations of these test results.
1. Explain the difference between screening (ie, noninvasive prenatal screening [cell-free DNA], newborn screening, carrier
screening), and diagnostic or predictive genetic and genomic testing strategies as components in the evaluation of a patient.
2. Discriminate between testing strategies with respect to the type of tissues evaluated (somatic vs constitutional/germline).
3. Recognize that the optimal approach is to test an affected family member first (informative vs uninformative testing result)
and that predictive genetic testing of unaffected and/or asymptomatic family members has ethical considerations.
4. Select genetic tests most appropriate for a patient’s suspected diagnosis. Recognize that testing can result in differences in
management (including preventive screening, changes to medication/dosing, surgery).
5. Interpret the results of a cytogenetic (G-banded karyotype, fluorescence in situ hybridization, or microarray) report with
respect to common numerical and structural chromosome abnormalities, and recognize their clinical features, etiologies
and prognoses (eg, trisomy 13, 18, 21; 47,XXY (Klinefelter syndrome); 45,X (Turner syndrome); 22q11.2 deletion
syndrome (DiGeorge syndrome); 7q11.23 deletion (Williams syndrome), 15q11.2 deletion (Prader-Willi/Angelman
syndrome).
6. Recognize the role of biochemical screening studies (eg, plasma ammonia, plasma acylcarnitine profile, plasma amino
acids, and urine organic acids) in the diagnosis of an inborn error of metabolism. Interpret the results in the context of the
patient’s clinical presentation.
7. Compare and contrast the value, sensitivity, and specificity of molecular and biochemical testing strategies in the diagnosis
and management of metabolic disorders.
8. Recognize the benefits and limitations of direct-to-consumer and consumer-initiated testing and how they may impact the
patient experience and their care.
Cancer genetics
Section goal: Describe indications for genetic referral related to cancer diagnosis, testing, treatment, and counseling.
1. Assess the likelihood of a hereditary cancer predisposition by evaluating an individual’s personal and family history of
cancer, including early age of onset of cancer, affected family members, multiple primary cancers, and type of cancer (eg,
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer, Lynch syndrome).
2. Recognize phenotypic characteristics of syndromic conditions with increased cancer risk that may benefit from a genetic
evaluation (eg, Peutz-Jeghers syndrome, PTEN-hamartoma syndrome, neurofibromatosis type 1, tuberous sclerosis
complex).
3. Recognize the benefits of germline testing in families with hereditary cancer predisposition syndromes, including
opportunity to improve disease surveillance in genotype positive but asymptomatic family members, provision of surgical
and/or other treatment options based on the known patterns and penetrance (high/moderate/low risk) of the cancer type.
Reproductive and prenatal
Section goal: Describe indications for a genetics referral for prenatal genetic counseling, testing, and diagnosis.
1. Recognize the indications and limitations for carrier screening including test characteristics, carrier frequency, and
personal/family history.
2. Discuss benefits, and limitations of currently used prenatal screening approaches, including first and second trimester
serum screening, noninvasive prenatal screening, and ultrasound evaluation.
(continued)
L.J. Massingham et al. 2175

Box 2. Continued
3. Discuss risks, benefits, and limitations of invasive prenatal diagnostic techniques including chorionic villi sampling,
amniocentesis, and cordocentesis.
4. Discuss indications for preimplantation genetic testing.
5. Recognize the impact of teratogens (eg, alcohol, drugs, infectious agents, hyperglycemia secondary to maternal diabetes)
on embryonic development, including the effect of dosage, timing, and duration of exposure.
Treatment and management
Section goal: Apply knowledge of the genetic disease etiology to the selection of treatment options and management.
1. Outline the principles for management of genetic diseases and describe their appropriate application based on disease
pathogenesis. Examples include correction, enhancement, or replacement of a defective structural protein or enzyme,
dietary treatment, modulation of RNA expression or function, alteration of DNA sequence to modulate gene expression
using techniques such as genome editing for somatic and germline therapies, organ transplantation, and stem cell therapy.
2. Define gene therapy and explain the current techniques. Outline scientific, ethical, and clinical obstacles to widespread
implementation of gene therapy.
3. Recognize how identification of a specific pathogenic variant in an individual could lead to targeted treatment and/or
management of disease. Some examples include BCR-ABL1 fusion (tyrosine kinase inhibitors such as imatinib),
PML-RARA fusion (all-trans retinoic acid [ATRA]), exon amenable skipping for Duchenne muscular dystrophy (DMD,
exon 51- eteplirsen), cystic fibrosis (CFTR, G551D- ivacaftor).
4. Explain how the presence of specific genetic variants that affect drug transport or metabolism in an individual patient
(pharmacogenetics) may predict physiological response or adverse reactions to medications and influence medical
management. Some examples include CYP2C19 (clopidogrel), CYP2C9 (warfarin), HLA-B*1502 (carbamazepine). Refer
to PharmGKB.org as a good resource for drug specific information.
Recognize the emerging role of polygenic risk scores in complex conditions and describe how modifications of lifestyle and environment
can prevent or mitigate disease in genetically predisposed individuals. Recognize that there may be limited portability of polygenic risk
scores developed using data from individuals of one ancestry to individuals of other ancestries.

improvement, professionalism, and systems-based practice
categories can be found in Box 3.
Discussion
The updated 2022 APHMG core competencies for medical
student education reflect the systematic collection, collation,
and synthesis of input from the APHMG medical and hu-
man genetics education community through a structured
process incorporating a modified Delphi method. The
updated competencies are current, assessable, specific, and
are designed to promote equity and inclusion in health care.
The professionals involved in this project have signifi-
cant experience in medical genetics education and/or clinical
practice or laboratory medicine. A substantial percentage
also had broader leadership roles at their respective in-
stitutions, including undergraduate medical education asso-
ciate Dean(s), chairs, and members of the curriculum
committee. This is beneficial because it provides a wider
breadth of experience in multiple subsections of genetics,
and it allows broad input and more accurate inclusion of
topics and phrasing.
Revisions were made with 4 main objectives. These
include thoughtful inclusion of new concepts and retirement
of outdated ones; use of precise language to capture the
highest level of competence expected of learners; addition
of new competencies or revision of existing ones to embrace
inclusivity, diversity, and strive for equity; and scrutiny of
each competency to minimize redundancies and revise the
competency placement within each category or subcategory.
Periodic updates of genetics curricula are necessary
because this is a rapidly evolving specialty and use of genetic
information is becoming more integral in clinical care across
all medical specialties. As our understanding of the genetic
architecture of disease expanding, medical student educational
objectives need to be adapted to match current genetics and
medicine practice. As the students learn from the updated
curriculum, they will be well positioned to take advantage of
advances in genetic testing variant classification and inter-
pretation as a consequence of improving bioinformatic tools
and functional studies. Additions to the competencies included
expansions of important new concepts, such as the next-
generation sequencing competency to include multigene,
exome, and genome analyses in Box 1 (medical knowledge,
cytogenetics and molecular genetics, competency 5). Poly-
genic risk scores are a new concept since the last update that is
now included in Box 2 (patient care, treatment and manage-
ment, competency 5). These competencies will continue to
benefit from periodic updates as new advances, such as RNA-
based studies and population-based genetic screening, enter
clinical practice. Competencies focused on less used or older
methods, such as linkage analysis, were eliminated to give the
student the opportunity to focus on the more current and
relevant diagnostic techniques. Some topics were revised for
clarification, such as expansion of the biochemical genetics
competencies to further highlight the importance of under-
standing of the biochemical pathway to explain the disorder’s
2176 L.J. Massingham et al.

Box 3. Interpersonal and communication skills, practice-based learning and improvement, professionalism, and systems-based
practice

Interpersonal and communication skills

Section Goal: Effectively communicate with patients and health care professionals, in an inclusive and sensitive manner, providing clear
and understandable information about genetic principles and inheritance.
1. Address fears and concerns of patients and family members regarding genetic testing to enable informed decision-making
in a respectful, sensitive, and nondirective manner.
2. Describe the role of clinical genetics professionals (eg, medical geneticists, genetic counselors, clinical laboratory
geneticists) in patient care and the process for making appropriate referrals for genetic evaluations.
3. Demonstrate the ability to explain to patients and families the rationale for a genetic evaluation and basic concepts of
inheritance.
4. Explain to the patient/family the rationale behind genetic evaluation and the components of genetic testing as they relate to
informed consent. These components include potential risks, benefits, and limitations of different types of results (ie,
diagnostic, nondiagnostic, variants of uncertain clinical significance, and secondary findings).
5. Recognize the relevance of patient autonomy in the informed consent/assent for genetic testing of minors (ie, the unique
implication of testing the minor for an adult-onset disorder).
6. Communicate family history and medical history pertinent to genetics with an interdisciplinary team of health care
professionals.
7. Evaluate personal knowledge and expertise about genetic counseling and testing to decide if and when to initiate pretest
counseling and genetic testing or to refer for specialty services.
Practice-based learning and improvement
Section goal: Recognize the strengths and deficiencies in one’s own knowledge of clinical genetics and genomics and adopt strategies for
self-improvement and lifelong learning.
1. Access reputable resources regarding genetic conditions to inform management and surveillance recommendations. Some
resources include GeneReviews, OMIM, NHGRI Talking Glossary of Genetic Terms, NCBI Genetic Testing Registry,
MedlinePlus-Genetics, National Organization for Rare Disorders (NORD), Understanding Rare Chromosome and Gene
Disorders (UNIQUE).
Professionalism
Section goal: Demonstrate respect, empathy, accountability, and integrity when interacting with and communicating genetic information
to patients, families, and health care professionals.
1. Explain how a patient’s autonomy (including their own privacy and confidentiality) can conflict with the health care
provider’s duty to warn potentially at-risk family members about genetic health risk.
2. Demonstrate compassion and respect regarding the potential socio-emotional impact of disclosing predictive genetic
testing results to patients and families.
3. Validate the individual identity of patients by recognizing how their unique characteristics may influence their decisions
regarding genetic testing and management.
Systems-based practice
Section goal: Explain the ethical, legal, and social implications of genetic information and its impact on public policy.
1. Explain the rationale for inclusion of a disease in a newborn screening program and the criteria that are important for a
successful genetic screening program.
2. Describe ethical challenges related to genetic information, including ensuring privacy and potential discrimination, and the
ways in which the Genetic Information Non-Discrimination Act (GINA) aims to address some of these issues.
3. Identify historical examples of how incorrect assumptions about correlations between the social construct of race and
genetic ancestry have been used to justify inequitable and unjust policies and practices in health care and society more
widely. Propose ways to minimize these harms in the present and future.

pathogenesis and the rationale for management (Box 1, med-
ical knowledge, biochemical genetics, competencies 2 and 3).
In some cases, examples were added to objectives with the goal
of explaining or presenting the objective more clearly, for
instance, examples included in Box 2 (patient care, genetics
and genomic testing, competency 1) screening vs diagnostic
tests, examples of some targeted therapies in Box 2 (patient
care, treatment and management, competency 3), and
examples of how pharmacogenetic risk variants may influence
management in Box 2 (patient care, treatment and manage-
ment, competency 4). Because more appropriate terminology
has evolved, updates were made to reflect more current ter-
minology, for example changing errors or mutations to vari-
ants (various competencies).
There was an emphasis on enabling the independent
assessment of learning related to each objective. One way to
L.J. Massingham et al.
accomplish this was optimization of incorporation of
Bloom’s taxonomy framework to clarify the action item for
medical students for each objective. Bloom’s taxonomy
follows a hierarchy, which supports the idea that learning is
built on prior knowledge and previously learned skills. It is
typically depicted as a pyramid with the lower-order tasks
originating at the base (or foundation) and progressing to
more complicated tasks moving up the pyramid (higher-
order tasks). The 2013 competencies were written to use
Bloom’s action verbs, however in the current version, we
refined some of the competencies to be higher-order tasks.
An example of this includes using “compare and contrast,” a
higher-order task, rather than “describe” the organization of
nuclear and mitochondrial genome (Box 1, medical
knowledge, genome organization, competency 1). Another
example is updating “recognize” to “discriminate between”
different tissue testing strategies (Box 2, patient care, ge-
netics and genomic testing, competency 2). The use of
higher-order tasks in these updates aim to reduce focus on
memorization and instead help foster appreciation for un-
derstanding and application of these concepts to better
prepare the students for eventual independent practice.
Significant effort was made to update the competencies
to embrace diversity, inclusivity, and strive for equity. A
tool to describe health equity as ranging from less produc-
tive to more productive exists.30 Examples of less produc-
tive actions include discrediting, distracting, or disregarding
evidence about what causes health inequities. Progressively
more productive health actions include acknowledging,
illuminating, and disrupting the systems and structures that
unfairly distribute power, resources, and wealth in the so-
ciety. With the use of this tool, we have tried to acknowl-
edge root causes, illuminate how the root causes lead to
inequities, and disrupt the root causes of inequities.
• Acknowledging recognizes an inequitable action. An
example of acknowledging a root cause of inequity can be
found in Box 1 (medical knowledge, population genetics,
competency 1 and systems-based practice, competency
3). In these competencies, we acknowledge that there are
differences between genetic ancestry and the social con-
structs of race and ethnicity, and by not recognizing these
differences, there is a risk of making incorrect inferences
about health in individuals and groups. Acknowledging
these differences is a first step toward a more promising
way to drive change to embrace diversity, inclusivity, and
strive for equity.
• Illuminating seeks to explain the understanding of how
the root cause led to the inequity. An example of illu-
minating can be found in Box 1 (medical knowledge,
population genetics, competency 4). In this compe-
tency, we highlight that a root cause of inequity in
research studies and databases includes inequitable
data collection because there has been limited diversity
in populations used for these analyses. This is shown
by the fact that together, people of African and Latin
2177
American descent and indigenous people represent less
than 4% of participants in genome studies.36 In
contrast, participants of European ancestry are greatly
overrepresented (78% in 1 study).37 The GWAS Di-
versity Monitor is a new tool to monitor trends and
identify gaps by disease, ancestry, and geography.37
This inequity has resulted in questions regarding the
applicability of these results to wider populations.
• Disrupting attempts to interrupt the root cause by
disturbing or altering the conditions that contribute to
the inequity. An example of disrupting can be found in
Box 2 (patient care, medical genetics/inheritance,
competency 3). In this we suggest use of the most
current and inclusive documentation techniques of a
pedigree. Traditional pedigree documentation may not
accurately convey the identity of transgender and
gender nonbinary individuals. Currently, there is no
consensus in accepted pedigree symbols to represent
these individuals, which can perpetuate discrimination
and contribute to barriers in care.38 The National So-
ciety of Genetic Counselors is currently in the process
of publishing an update of the 2008 standardized hu-
man pedigree nomenclature.39 An important aspect of
disrupting the root cause of inequity is using updated
affirming pedigree nomenclature to embrace
inclusivity.
An effort was made to group similar concepts together
and minimize redundancy to aid in interpretation of the
goals and ease of reference. An example of this is in the 3
competencies in cytogenetics and molecular genetics in
which each competency was worded used the same
framework (“compare and contrast the uses and limita-
tions”) of 3 different categories of techniques (cytoge-
netic, sequencing, and alternative molecular techniques).
Some of the competencies were initially more narrowly
focused and under more specific headings (eg, cancer
genetics), however, the concept was also true more
broadly. These competency’s scopes were expanded and
moved to a more generalized competency subgroup, for
example Box 2 (patient care, treatment and management,
competency 3). Each objective was carefully considered
to ensure that it was included in the most appropriate
section. For example, the nomenclature and uses of lim-
itations of different genetic testing techniques are included
in Box 1 (medical knowledge, cytogenetics and molecular
genetics). The interpretation of these tests was moved to
Box 2 (patient care, genetic and genomic testing) because
this relates more to the care of a patient than basic
knowledge. The variants of uncertain significance com-
petency was moved to Box 3 (interpersonal and commu-
nication skills) from its previous location (patient care,
genetic testing) reflecting the importance of understanding
underlying concepts and the ability to communicate with
patients and other providers about the different types of
genetic testing results.
2178
Conclusion
These updated competencies are intended to serve as a
guideline for medical schools and medical genetics educa-
tors to ensure they provide clear goals, are inclusive in their
teaching, and cover current and relevant content in the field
of genetics. Providing a comprehensive education in ge-
netics as one of the essential components of medical school
education will help ensure that physicians across disciplines
have the necessary competence to use novel preventive,
diagnostic, and therapeutic decision-making tools, allowing
our society to benefit from equitable improvements in
clinical outcomes.
Data Availability
This work does not include any clinical data or development
of materials or software. The Qualtrics survey syntax and
survey response data are available upon request from the
corresponding author.
Acknowledgments
The APHMG CD_SIG MECCW thanks the APHMG
Council for their contributions, suggestions and edits. The
members of Association of Professors of Human and
Medical Genetics Council 2021-2022: Shoumita Dasgupta,
Boston University School of Medicine; Katherine Hyland,
University of California, San Francisco School of Medicine;
Deborah Sara Barbouth, Miami University School of
Medicine; Kathryn Garber, Emory University School of
Medicine; Anna Hurst, University of Alabama School of
Medicine; Cynthia Powell, University of North Carolina
School of Medicine; Stephen Moore, Oregon Health and
Science University.
Author Information
Conceptualization: S.N.; Data Curation: F.Q.-R., L.J.M.;
Formal Analysis: L.J.M., F.Q.-R.; Methodology: L.J.M.,
F.Q.-R.; Software: L.J.M.; Supervision: F.Q.-R.; Writing-
original draft: L.J.M.; Writing-review and editing: J.A.B.,
D.P.G., A.S.P., E.T.S., S.N., F.Q.-R.
Ethics Declaration
This work does not report a clinical study or experiment
with human subjects. This study was judged by the in-
vestigators to be exempt from review by the institutional
review board on the basis of the federal regulation 45
CFR 46.101(b)(2), which covers research involving the
L.J. Massingham et al.
use of educational tests. In compliance with that regula-
tion, none of the recorded or published information can
be linked to any human subject, directly or through
identifiers.
Conflict of Interest
The authors declare no conflicts of interest.
Affiliations
1
Division of Medical Genetics, Department of Pediatrics,
Hasbro Children’s Hospital, Providence, RI; 2Warren Alpert
Medical School of Brown University, Providence, RI;
3
Department of Genetics, Yale University School of Medi-
cine, New Haven, CT; 4Department of Pediatrics, Stanford
University School of Medicine, Stanford, CA; 5Department
of Biomedical Sciences, Marian University College of
Osteopathic Medicine, Indianapolis, IN; 6Center for Human
Genetics, University Hospitals Cleveland Medical Center,
Department of Genetics and Genome Sciences, Case
Western Reserve University School of Medicine, Cleveland,
OH; 7Department of Pathology, University of Maryland
School of Medicine, Baltimore, MD; 8Division of Genetic
and Genomic Medicine, Departments of Pathology, Labo-
ratory Medicine, and Pediatrics, School of Medicine, Uni-
versity of California, Irvine (UCI), Irvine, CA
The Association of Professors of Human and
Medical Genetics Course Directors Medical
Education Core Curriculum Workgroup (APHMG
CD-SIG MECCW) members
Hanna Anderson, Myla Ashfaq, Jonathan Bernstein, Leah
Burke, Courtney Cross, Shweta Dhar, Kathryn Garber,
David Gardner, June-Anne Gold, Alice Hudder, Katherine
Hyland, Niels Larsen, Lauren Massingham, Sabrina Nuñez,
Aditi Parikh, Lynette Penney, Alisdair (Rod) Philp, Alice B.
Popejoy, Fabiola Quintero-Rivera, Andrew K. Sobering,
Lois Starr, Erin T. Strovel, Helga V. Toriello, Tracey
Weiler, Svetlana Yatsenko.
References
1. Frenk J, Chen L, Bhutta ZA, et al. Health professionals for a new
century: transforming education to strengthen health systems in an
interdependent world. Lancet. 2010;376(9756):1923–1958. http://doi.
org/10.1016/S0140-6736(10)61854-5.
2. Friedman JM, Blitzer M, Elsas LJ II, Francke U, Willard HF. Clinical
objectives in medical genetics for undergraduate medical students.
Association of Professors of Human Genetics, Clinical Objectives Task
Force. Genet Med. 1998;1(1):54–55. http://doi.org/10.1097/00125817-
199811000-00013.
L.J. Massingham et al.
3. Hyland KM, Dasgupta S, Garber K, et al. Association of Professors of
Human and Medical Genetics medical school core curriculum in ge-
netics 2013. Association of Professors of Human and Medical Ge-
netics. https://www.aphmg.org/resources/Documents/Papers%20and%
20Collaborations/APHMG_GeneticsCoreCurriculum_2013.pdf.
4. Core Competency Working Group of the National Coalition for Health
Professional Education in Genetics. Recommendations of core com-
petencies in genetics essential for all health professionals. Genet Med.
2001;3(2):155–159. http://doi.org/10.1097/00125817-200103000-
00011.
5. Association of American Medical Colleges. Report VI. Contemporary
issues in medicine: genetics education. June 2004. https://www.aamc.
org/media/24221/download?attachment
6. Tognetto A, Michelazzo MB, Ricciardi W, Federici A, Boccia S. Core
competencies in genetics for healthcare professionals: results from a
literature review and a Delphi method. BMC Med Educ. 2019;19(1):19.
http://doi.org/10.1186/s12909-019-1456-7.
7. Glinton KE, Potocki L, Dhar SU. An innovative medical school cur-
riculum to enhance exposure to genetics and genomics: updates and
outcomes. Genet Med. 2022;24(3):722–728. http://doi.org/10.1016/j.
gim.2021.10.017.
8. Korf BR, Berry AB, Limson M, et al. Framework for development of
physician competencies in genomic medicine: report of the Compe-
tencies Working Group of the Inter-Society Coordinating Committee
for Physician Education in Genomics. Genet Med. 2014;16
(11):804–809. http://doi.org/10.1038/gim.2014.35.
9. Batalden P, Leach D, Swing S, Dreyfus H, Dreyfus S. General com-
petencies and accreditation in graduate medical education. Health Aff
(Millwood). 2002;21(5):103–111. http://doi.org/10.1377/hlthaff.21.5.
103.
10. Englander R, Cameron T, Ballard AJ, Dodge J, Bull J,
Aschenbrener CA. Toward a common taxonomy of competency do-
mains for the health professions and competencies for physicians. Acad
Med. 2013;88(8):1088–1094. http://doi.org/10.1097/ACM.0b013e31
829a3b2b.
11. Haspel RL, Genzen JR, Wagner J, Fong K. Undergraduate Training in
Genomics (UTRIG) Working Group, Wilcox RL. Call for improve-
ment in medical school training in genetics: results of a national survey.
Genet Med. 2021;23(6):1151–1157. http://doi.org/10.1038/s41436-
021-01100-5.
12. White S, Jacobs C, Phillips J. Mainstreaming genetics and genomics: a
systematic review of the barriers and facilitators for nurses and physi-
cians in secondary and tertiary care. Genet Med. 2020;22(7):1149–1155.
http://doi.org/10.1038/s41436-020-0785-6.
13. Kaye C, Korf B. Genetic literacy and competency. Pediatrics.
2013;132(Suppl 3):S224–S230. http://doi.org/10.1542/peds.2013-
1032G.
14. Wilcox RL, Adem PV, Afshinnekoo E, et al. The Undergraduate
Training in Genomics (UTRIG) Initiative: early & active training for
physicians in the genomic medicine era. Pers Med. 2018;15(3):199–208.
http://doi.org/10.2217/pme-2017-0077.
15. Dasgupta S, Feldman GL, Powell CM, et al. Training the next gener-
ation of genomic medicine providers: trends in medical education and
national assessment. Genet Med. 2020;22(10):1718–1722. http://doi.
org/10.1038/s41436-020-0855-9.
16. Hyland K, Garber K, Dasgupta S. From helices to health: undergrad-
uate medical education in genetics and genomics. Pers Med.
2019;16(3):211–220. http://doi.org/10.2217/pme-2018-0081.
17. Slade D. PARP and PARG inhibitors in cancer treatment. Genes Dev.
2020;34(5-6):360–394. http://doi.org/10.1101/gad.334516.119.
18. Franceschini G, Di Leone A, Terribile D, Sanchez MA, Masetti R.
Bilateral prophylactic mastectomy in BRCA mutation carriers: what
surgeons need to know. Ann Ital Chir. 2019;90:1–2.
2179
19. Tanakaya K. Current clinical topics of Lynch syndrome. Int J Clin
Oncol. 2019;24(9):1013–1019. http://doi.org/10.1007/s10147-018-1282-7.
20. Musunuru K, Hershberger RE, Day SM, et al. Genetic testing for
inherited cardiovascular diseases: a scientific statement from the
American Heart Association. Circ Genom Precis Med. 2020;13(4):
e000067. http://doi.org/10.1161/HCG.0000000000000067.
21. Cernat A, Hayeems RZ, Ungar WJ. Cascade health service use in
family members following genetic testing in children: a scoping liter-
ature review. Eur J Hum Genet. 2021;29(11):1601–1610. http://doi.
org/10.1038/s41431-021-00952-4.
22. Doran GT. There’s a S.M.A.R.T. way to write management’s goals and
objectives. Manag Rev. 1981;70(11):35–36.
23. Miller GE. The assessment of clinical skills/competence/performance.
Acad Med. 1990;65(9 Suppl):S63–S67. http://doi.org/10.1097/0000
1888-199009000-00045.
24. Bloom BS. Taxonomy of Educational Objectives: the Classification of
Educational Goals. David McKay Company, Inc; 1956.
25. Anderson LW, Krathwohl DR, eds. A Taxonomy for Learning,
Teaching, and Assessing: A Revision of Bloom’s Taxonomy of
Educational Objectives. Pearson; 2001.
26. Adams NE. Bloom’s taxonomy of cognitive learning objectives. J Med
Libr Assoc. 2015;103(3):152–153. http://doi.org/10.3163/1536-5050.
103.3.010.
27. Lee K. How do we move forward on the social determinants of health:
the global governance challenges. Crit Public Health. 2010;20(1):
5–14. http://doi.org/10.1080/09581590903563573.
28. Marmot M, Friel S, Bell R, Houweling TA, Taylor S, Commission on Social
Determinants of Health. Closing the gap in a generation: health equity
through action on the social determinants of health. Lancet. 2008;372
(9650):1661–1669. http://doi.org/10.1016/S0140-6736(08)61690-6.
29. Braveman P, Arkin E, Orleans T, Proctor D, Acker J, Plough A. What
is health equity? Behav Sci Policy. 2018;4(1):1–14.
30. Plamondon KM. A tool to assess alignment between knowledge and
action for health equity. BMC Public Health. 2020;20(1):224. http://
doi.org/10.1186/s12889-020-8324-6.
31. Braveman P. Health disparities and health equity: concepts and mea-
surement. Annu Rev Public Health. 2006;27:167–194. http://doi.org/
10.1146/annurev.publhealth.27.021405.102103.
32. Dalkey N, Helmer O. An experimental application of the Delphi
method to the use of experts. Manag Sci. 1963;9(3):458–467.
33. Bachmann C, Abramovitch H, Barbu CG, et al. A European consensus
on learning objectives for a core communication curriculum in health
care professions. Patient Educ Couns. 2013;93(1):18–26. http://doi.
org/10.1016/j.pec.2012.10.016.
34. Hsu CC, Sandford BA. The Delphi technique: making sense of
consensus. Pract Assess Res Eval. 2007;12(1):10.
35. Jünger S, Payne SA, Brine J, Radbruch L, Brearley SG. Guidance on
Conducting and REporting DElphi Studies (CREDES) in palliative care:
recommendations based on a methodological systematic review. Palliat
Med. 2017;31(8):684–706. http://doi.org/10.1177/0269216317690685.
36. Guglielmi G. Facing up to injustice in genome science. Nature.
2019;568(7752):290–293. http://doi.org/10.1038/d41586-019-01166-x.
37. Mills MC, Rahal C. The GWAS Diversity Monitor tracks diversity by
disease in real time. Nat Genet. 2020;52(3):242–243. http://doi.org/10.
1038/s41588-020-0580-y.
38. Sheehan E, Bennett RL, Harris M, Chan-Smutko G. Assessing trans-
gender and gender non-conforming pedigree nomenclature in current
genetic counselors’ practice: the case for geometric inclusivity. J Genet
Couns. 2020;29(6):1114–1125. http://doi.org/10.1002/jgc4.1256.
39. Bennett RL, French KS, Resta RG, Doyle DL. Standardized human
pedigree nomenclature: update and assessment of the recommendations
of the National Society of Genetic Counselors. J Genet Couns.
2008;17(5):424–433. http://doi.org/10.1007/s10897-008-9169-9.