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qwertyuiopasdfghjklzxcvbnmqw ertyuiopasdfghjklzxcvbnmqwert yuiopasdfghjklzxcvbnmqwertyui opasdfghjklzxcvbnmqwertyuiopa Genetics: From LABORATORY To SCHOOL To PRACTICE sdfghjklzxcvbnmqwertyuiopasdf ghjklzxcvbnmqwertyuiopasdfghj SHAIRA MARISE E.

LETADA, RN klzxcvbnmqwertyuiopasdfghjklz xcvbnmqwertyuiopasdfghjklzxcv bnmqwertyuiopasdfghjklzxcvbn mqwertyuiopasdfghjklzxcvbnmq wertyuiopasdfghjklzxcvbnmqwe rtyuiopasdfghjklzxcvbnmqwerty uiopasdfghjklzxcvbnmqwertyuio pasdfghjklzxcvbnmqwertyuiopas dfghjklzxcvbnmqwertyuiopasdfg hjklzxcvbnmqwertyuiopasdfghjk


to provide a review on basic genetics to discuss updates and trends on science of genetics to provide a historical review of nursing's involvement with genetics to discuss the challenges facing the nursing profession in terms of incorporating genetic and genomic care into nursing education and practice to provide present and future educators and practicing nurses with the resources they need to learn and teach genetics to determine the importance of genetics to reproductive health


1. Human Genome Project (HGP) 2. HapMap Project 3. Studies of the Structure and Function of Human Proteins 4. Gene Therapy 5. Stem Cell Therapy


1987 sequencing of human genome genetic diversity

1989 federal funding

1990 the 15-year project officially began

1993 guidelines informed consent

1999 Single Nucleotide Polymorphisms (SNPs) Consortium

Nursing and the Human Genome Project: A Historical Review


> Inadequate nursing knowledge of genetics was first documented in a nursing journal 1980s > Integrating of genetics into nursing education began (L. Wright) > ANA published a document summarizing a survey of nurses' knowledge and use of genetic information 1994 & 1995 > Review of the status of genetics in primary healthcare > Address ways to incorporate genetics into medical and nursing education > Recognized that all healthcare providers, would need to integrate genetic knowledge into their routine practice 2000 > Highlighted the relevance and importance of genetics to healthcare > Described the implications of genetics for nursing education > Noted the need to add genetic content to the curriculum and to make this information available to all nurses.

is a consortium of scientists that aims to develop a HAPlotype (combination of alleles/DNA sequences at adjacent locations/loci on the chromosome that are transmitted together) MAP of the human genome, which will describe the common patterns of human genetic variation and has a purpose of studying complex diseases and disease variations around the world a key resource for researchers to find genetic variants affecting health, disease and responses to drugs and environmental factors because the information produced by the project is made freely available around the world officially started with a meeting on October 27 to 29, 2002 comprises Three Phases Phase I: published on 27 October 2005 Phase II: published in October 2007 Phase III: released in spring 2009

PROTEINS perform most life functions and make up the majority of cellular structures are large, complex molecules made up of smaller subunits called amino acids chemical properties that distinguish the 20 different amino acids cause the protein chains to fold up into specific three-dimensional structures that define their particular functions in the cell.


constellation of all proteins changes from minute to minute in response to tens of thousands of intra- and extracellular environmental signals

PROTEOMICS studies to explore protein structure and activities that will help elucidate the molecular basis of health and disease

1972 the use of DNA as a pharmaceutical agent (supplement or alter genes within an individual's cells) to treat disease DNA that encodes a therapeutic protein is packaged within a "vector", which is used to get the DNA inside cells within the body. Once inside, the DNA becomes expressed by the cell machinery, resulting in the production of therapeutic protein, which in turn treats the patient's disease. first FDA-approved gene therapy experiment in US occurred in 1990, when Ashanti DeSilva was treated for X-linked SCID Other diseases treated include: Leber's Congenital Amaurosis ADA-SCID Adrenoleukodystrophy Parkinson's disease


introduces new cells into damaged tissue in order to treat disease or injury its ability to self-renew and give rise to subsequent generations with variable degrees of differentiation capacities offers significant potential for generation of tissues that can potentially replace diseased and damaged areas in the body, with minimal risk of rejection and side effects at experimental stage and costly

Today's Challenge: Incorporating Genetic and Genomic Discoveries into Nursing Education and Practice
Three Primary Barriers to Implementing Genetics into Nursing Education lack of adequate genetic knowledge by most nursing faculty; limited numbers of administrators and nursing faculty who view genetic content as important; and the perception that there is no room in the curriculum for any new content


Essential nursing competencies for genetics and genomics were established by a unanimous consensus of 49 nursing organizations that represent a cross section of nurse leaders from clinical, research, and academic settings.

New practice guidelines recommend early identification and prevention of diseases that are hereditary. American Society of Gynecological Oncologists The American College of Obstetricians and Gynecologists (2007) The U.S. Preventive Services Task Force (USPSTF) (2007) September 2007, Department of Health of Human Services

To date, few nurses have assumed their professional responsibility of becoming knowledgeable in the area of genetics and genomics. Nurse researchers, too, have failed to add to our body of knowledge of the nursing role in genetic care. Although there are many genetic research opportunities for nurses, nurses have been conspicuously absent from genetic research. Without proper education and training of nurses, all these advances in the said area will be useless and will have the potential to be problematic in that consumers may be given clinical findings which they are unable to interpret because the current generation of nurses is unable to guide patients in acting upon the genetic information they have received. So, the expansion of human genetic information available to patients leads to new responsibilities for all practicing nurses and nurse educators.


For Educators in Academic Programs
Undergraduate nursing students need to be prepared to recognize the following: disease patterns collect family histories understand genetics including pharmacogenetic principles be familiar with common genetic disorders and the ethical, legal, and social issues surrounding genetic testing

Graduate nursing students need to increase their depth of knowledge regarding the above topics and develop the beginning skills required to participate in genetic research. Genetics content can be incorporated into a nursing curriculum: stand-alone module(s) or course(s) by integrating the content into existing modules or courses

Example: Cincinnati Children's Hospital has developed a series of 14 curriculum modules including case studies. The genetic content of history taking and pedigrees can be taught in nursing courses such as; Clinical Core Didactic Foundations of Nursing Health Assessment

Nursing Practice. Health Assessment courses

Here, students learn to conduct physical assessments and gather the family history of their patient, provide an opportunity to learn how to collect a three-generation pedigree and recognize autosomal recessive, dominant, and X-linked diseases within the pedigree. In 2002, Health Resources and Services Administration (HRSA) suggested that nursing programs should be interdisciplinary and focus on the translation of genetic information into practice and research, which would include; at least one nursing faculty one or more of the following disciplines teaching together:         a science faculty with a background in genetics a member of the school of pharmacy with a background in pharmacogenomics environmental scientists who are interested in genetic disorders public health experts with an interest in genetics epidemiologists statistical experts genetic counselors social workers with a background in caring for families and individuals with genetic disorders, and medical geneticists

For Nurse Educators in Healthcare Agencies

Responsibilities: facilitate learning and professional development design appropriate learning experiences, and evaluate learning outcomes of nurses working in the agency

This can be done through a series of brown-bag, journal-discussion lunches on topics of interest to the staff. Example: The Journal of Nursing Scholarship had an expert oversight panel guide the publication of a series of genetic articles by nurses in 2005-2006. This series addressed common problems, such as the genetic risk for deep venous thrombosis.

For Practicing Nurses

Identify hereditary and predisposing characteristics Identify patients and family members at highest disease risk Promote behaviors and surveillance that will reduce disease risk Guide patients and families in decisions regarding genetic testing and treatment

Refer and/or prescribe appropriate disease management strategies Advocate for policy that promotes genetic healthcare Practicing nurses need to know and understand what their patients are reading on the Internet.  Professional organization Example: International Society of Nurses in Genetics

Practicing nurses will find the translation of genetic and genomic research into practice playing an increasingly important role in patient care.  The demands on all primary care providers, including the master's prepared nurses, will increase dramatically as new genetic tests, and the interpretation of these test results, become routine in primary care.

Resources for Nurses

WEBSITES  Genomics for Public Health

CONTINUING EDUCATION COURSES  The Duke University (Accessible Genetics Research Education)

PROFESSIONAL ORGANIZATIONS  International Society of Nurses in Genetics (ISONG) - Genetics in the Physician Assistant's Practice


SCIENCE FACULTY or COLLEAGUES  Partner with universities and hospitals for student lectures and staff development programs

It is an exciting time to be a nurse with all of the scientific advances that are taking place. Nurses, who comprise the largest single profession in the healthcare industry, are responsible for patient safety, care, and education and have also established themselves as patient advocates. Yet if practicing nurses and nursing educators fail to take advantage of opportunities to embrace genetics as an important means of improving patient care, nurses will not be included in policy or monetary decisions related to advancing the healthcare of patients through genetic research. Worse, nurses will no longer be able to advocate for their patients or provide safe care. Now is the time for all nurses to advance with the rest of the healthcare team, embracing and using genetic and genomic discoveries as they enter a new era in healthcare. References 008/No1Jan08/ResourceGuide.html - Estados Unidos Nursing Now: Issues and Trends in Canadian Nursing Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd Edition