NURSING INFORMATICS

A. Should consent be required for screening that doesn’t stand to directly benefit the infant during
childhood?
- Consent should be required for screening that doesn't directly benefit the infant during childhood. The
parents should be fully informed of the purpose and possible outcomes of the test, including the potential
for incidental findings, and should provide informed consent before any screening is performed.

B. Who should be told about health care conditions that will not emerge in childhood?
- Health care conditions that will not emerge in childhood should be disclosed to the parents or
guardians, and they should be counseled on the potential implications of such conditions on future health,
insurance, and employment opportunities.

C. When should information about an adult-onset health care condition be provided?

- Information about adult-onset healthcare conditions should be provided to the individual as soon as
possible, and they should be counseled on appropriate screening and management strategies.

D. How much should be revealed at one time?

- The amount of information disclosed at one time should be tailored to the individual's needs and
understanding. It is essential to provide clear and concise information that is easily digestible, taking into
account the individual's literacy and numeracy levels.

E. What healthcare professional is best positioned to discuss all the health risks that might be revealed in
Sophia’s genome?
- A genetic counselor is best positioned to discuss all the health risks that might be revealed in Sophia's
genome. Genetic counselors are trained to interpret genomic data, explain the implications of the findings,
and provide recommendations for screening, treatment, and management.

F. What education will health professionals need to prepare them to handle the data and the subsequent
questions?
- Health professionals will need comprehensive training on genomics and its implications, including data
management, ethical and legal issues, and communication skills to effectively counsel patients and their
families.

G. What kind of education do parents need to understand genomic results?

- Parents need education on the potential implications of genomic testing, the accuracy and limitations of
genomic data, and the importance of follow-up screening and management.

H. Who ensures that Sophia and her family are kept informed as understanding of what genes and
associated risks evolve?
- The healthcare provider responsible for ordering the test should ensure that Sophia and her family are
kept informed of any new developments in genomics that may affect their healthcare, and provide timely
updates as necessary.
I. What is the impact of “false positive” reports?
- False-positive reports can cause undue anxiety, leading to unnecessary interventions and healthcare
costs. Therefore, measures should be in place to minimize the likelihood of false-positive results and to
ensure that individuals are appropriately counseled when such results occur.

J. What non healthy care risk information should be disclosed (i.e., non-paternity)?
- Non-healthcare risk information, such as non-paternity, should be disclosed only with the individual's
consent and in accordance with ethical and legal guidelines.

K. Should speculative (non validated or poorly predictive) results be disclosed?

Speculative results that are non-validated or poorly predictive should not be disclosed to individuals or
their families.

L. Genes are shared among family members and although an infant’s genomic data may help some family
members (i.e., can help to inform Sophia’s parent’s plan for future pregnancies), it may reveal
information about other family members that they may not want to know. How will this information be
protected?
- Family members' privacy should be protected, and information about other family members should not
be disclosed without their consent, except where legally required or authorized.

M. What impact could WGS have on health care systems?

-WGS provides more actionable information to accelerate diagnoses and treatment. Genomics can also
identify these alterations and search for them using an ever-growing number of genetic tests. There is also
a clinical screening program that shares the goal of examining genes or variants in unselected populations
to identify individuals at increased risk to help prevent future disease, or adverse drug outcomes.

1. How will information systems handle the massive amount of raw data?

- Users frequently need to clean raw data before it can be used. They can do this by prioritization –
choosing what's important and what is not. It may be necessary to interpret raw data for computer
intake, remove outliers or incorrect findings, and occasionally reformat or translate the data—a
procedure frequently referred to as "massaging" or "crunching". Users can arrange, organize, and
graph data using a spreadsheet program like Microsoft Excel or Google Sheets to show simple
trends and aid in data summarization. For financial trends or forecasting, more complex systems,
such business intelligence (BI) applications, may employ raw data.

2. How will the information systems display genomic information to providers? What will the graphic
user interface (GUI) look like?

- Genomic knowledge is being translated into clinical care. Utilizing the EHR to present
information to support the use of genomic medicine in clinical care to improve outcomes
represents a tremendous opportunity. The EHR is an essential component of clinician workflow.

3. Who will ensure that the interpretation (analysis) of genomic information contained in health care
system databases is both accurate and continually updated?
Physicians will gather clinical information and write an order for updated interpretation of the genome
based on the validated information that has occurred. There needs to be agreement upon standards for
both analytical and clinical validation. Clinical data will need to be linked to genomic databases in order
to further understand the phenotypic effects of genetic variants.

4. How will health care systems handle the inevitable “false positive” results?

-There are ways that the health care system can prevent the inevitable "false positives," including a
review of test cases. Some variables could affect test results and should first be identified. It can be done
by running an additional automated test that concentrates solely on the issue. In this manner, errors can be
identified and fixed before releasing the results.

5. How long should raw data be stored? Should it be stored in the patient’s file and, if so, under what
conditions?

-Regulation requires that all raw data be kept for a minimum of 3-years after study completion. However,
some institutions require you to keep data for a longer period of time, while different disciplines may
demand even longer storage terms.

6. Should genomic information collected for health care purposes be released to legal authorities
investigating criminal activity?

- Legislation differs depending on jurisdiction and situations but in general, there is uncertainty that
disclosing such information could jeopardize patient privacy, trust, and autonomy, as well as reduce
persons seeking healthcare. The Health Insurance Portability and Accountability Act (HIPAA) of the
United States, for example, includes rules that limit the sharing of protected health information (PHI) with
law enforcement agencies. There are exceptions to this rule, such as where the disclosure is mandated by
law or when information is necessary to prevent or lessen a serious and urgent threat to an individual's or
the public's health or safety.

N. Who does the data belong to: the state, the insurance company, or the individual?
- The data belong to the individual, and they have the right to decide who can access their genomic data,
subject to legal and ethical considerations. The state or insurance company does not have ownership of
the data unless required by law or contractual agreement.

References:

The Interpretation of Genomic Data - Integrating Large-Scale Genomic Information into Clinical
Practice. (n.d.). NCBI. Retrieved April 29, 2023, from
https://www.ncbi.nlm.nih.gov/books/NBK92092/

Williams, M. S., Taylor, C. O., Walton, N. A., Goehringer, S. R., Aronson, S., Freimuth, R. R., Rasmussen,
L. V., Hall, E. S., Prows, C. A., Chung, W. K., Fedotov, A., Nestor, J., Weng, C., Rowley, R. K.,
Wiesner, G. L., Jarvik, G. P., & Del Fiol, G. (2019). Genomic Information for Clinicians in the
 Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the
Electronic Medical Records and Genomics Network. Frontiers in genetics, 10, 1059.
https://doi.org/10.3389/fgene.2019.01059

American College of Medical Genetics and Genomics (ACMG). (2015). Points to consider in the clinical
application of genomic sequencing. Genetics in Medicine, 17(8), 578-584.

Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule. (n.d.). U.S. Department of
Health & Human Services. Retrieved from
https://www.hhs.gov/hipaa/forprofessionals/privacy/index.html

Wright, G. (2021, May 6). What is raw data and how does it work? Data Management. Retrieved April
29, 2023, from https://www.techtarget.com/searchdatamanagement/definition/raw-data