Genomics FAQ for Advanced-Practice Nurses: Nurse Practitioners

All healthcare professionals, including nurse practitioners, must remain current in their knowledge about genomics to provide safe and effective care for patients.

The scope of practice for nurse practitioners related to genetic and genomic care includes but is not limited to the following:

• Assess, diagnose and create care plans based on precision health principles.
   
• Order genetic tests and provide pre- and post-test counseling.
   
• Provide individual and family risk information.
   
• Follow risk-based screening guidelines.

Nurse practitioners may also request consultation from, or refer patients to, genetic specialists for further workup and management, including discussing family history and genetic risk or providing information before or after genetic testing.

The following types of clinicians are considered specialists in genetics and genomics:

• Clinical geneticists (M.D.s and D.O. degrees certified by the American College of Medical Genetics).
   
• Nurse practitioners or physician assistants working in genetics clinics.
   
• Nurse practitioners with the Advanced Clinical Genomics Nurse credential (ACGN).
   
• Genetic counselors.
   
• Metabolic nutritionists.

These professionals can be located by searching their credentialing bodies (see links below) or by contacting the local healthcare network and inquiring about the referral and consultation process.

Careers in Medical Genetic — American College of Medical Genetics and Genomics

Advanced Clinical Genomics Nurse — Nurse Portfolio Credentialing Commission About Genetic Counselors — National Society of Genetic Counselors

There are other health care professionals (e.g., pharmacists, pathologists) who may be able to provide genomics-related information and guidance to nurse practitioners, depending on their level of genetic and genomic training and expertise or additional certifications.

Genetic testing is generally categorized according to purpose and type.

Reasons for genetic testing include three broad categories:

• Diagnostic testing for a suspected condition.
   
• Predictive testing to determine if an individual is at risk of developing a condition.
   
• Screening to identify the need for preventive therapy.

Genetic tests include analyses of genes, chromosomes, or proteins.

Tests that focus on genes, also known as molecular tests, identify variants in one or more genes.

Tests can focus on single genes associated with a particular condition. Tests can also examine variants in panels that include multiple genes, or whole exome or whole genome sequences

Chromosomal tests analyze entire chromosomes to detect large scale changes such as duplications or deletions.

Gene expression tests analyze mRNA and can identify over- or under-expression of certain genes, which affects what proteins are produced.

Biochemical tests measure enzymes or the activity level of proteins to identify possible changes in DNA.

These tests can be used for different purposes, such as reproductive decision making, carrier testing, and testing of a fetus for a suspected genetic condition. Genetic tests can also provide additional information for condition management (e.g., breast cancer, medication adjustment).

The Genetic Testing Registry provides information about genetic conditions, available tests and testing laboratories.

Direct-to-consumer (DTC) genetic testing allows individuals to obtain and pay for genetic testing without the involvement of a healthcare provider. Consumers often pursue DTC testing to learn more about ancestry, but results may also include genetic variants associated with health conditions. Patients may choose to share their DTC results with their health care providers.

Education on the benefits and limitations of DTC testing is needed to ensure that advanced practice nurses can provide patients with appropriate and accurate information.

DTC genetic testing raises ethical concerns about genetic literacy, and the extent to which providers and patients understand the results. Without guidance from knowledgeable healthcare providers, the risk for life changing healthcare decisions may increase.

There is limited oversight and regulation of companies that offer DTC genetic testing and testing accuracy is not always known. Nurse practitioners may need to confirm clinically actionable DTC results through follow-up testing at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.

Interpreting DTC genetic test results can be complex. Many conditions are the result of the interaction of genetic and environmental factors, and individuals carrying certain genetic variants may not develop associated health conditions.

Additional information on DTC genetic testing and implications for NP practice:

• Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals
   
• List of DTC genetic tests approved by the U.S. Food and Drug Administration (FDA)
   
• International Society of Nurses in Genetics (ISONG) Position Statement on Direct-to-Consumer Genetic/Genomic Testing (DTC-GT)

Advanced practice nurses taking a family history use genetics in several ways:

Taking a three-generation family history for genetically related family members.

The first goal is to screen for diseases within the biological family.
The second goal is to identify patterns of inheritance for health conditions that may indicate a potential problem such as:

• Dominant traits.
   
• Sex-linked patterns.
   
• Recessive genes.

Identifying red flags in the family history such as:

• Multiple family members with same problem.
   
• Earlier onset of disease than might be expected.
   
• Disease in less commonly affected biological sex (e.g., breast cancer in men).
   
• Sudden deaths (e.g., Wolff Parkinson White, Long QT syndrome, ASHD and dyslipidemia).
   
• Ethnicity (see resources).
   
• Consanguinity (e.g., determine risk for recessive disease in offspring of closely related individuals).
   
• Early/recurrent pregnancy loss.

Prioritizing individuals for possible further genomic analysis.

Identifying those at increased need for primary and secondary prevention.

• Counseling for disease risk, prevention and detection.
   
• Genetic counseling for pregnancy planning and serious genetic conditions (e.g., Huntington disease).
   
• Selecting medications based on an individual’s genetic make-up. Knowing how some medications work for family members may help guide medication selection. Genetic testing may be performed to further optimize medication choices.
   

Educating patients about lifestyle changes and environmental factor modifications based on genetic family history.

• Promoting next steps for patient health.
   
• Improving health outcomes (determine screening timing and intervals).
   
• Maintaining and updating family history in collaboration with patients and families.

A Guide to Genetics and Health. Why is genetics important to my family and me?

About genetic counselors – The National Center of Genetic Counselors

Advanced Clinical Genomics Nurse credential (ACGN) – Nurse portfolio credentialing commission (NPCC)

American College of Medical Genetics and Genomics, Advanced Solutions International I. Careers in medical genetics

Campion MA, Goldgar C, Hopkin RJ, Prows CA, Dasgupta S. Genomic education for the next generation of health-care providers. Genetics in Medicine. 2019;21(11):2422-2430. doi:10.1038/s41436-019-0548-4.

Carroll JC, Allanson J, Morrison S, et al. Informing integration of genomic medicine into primary care: An assessment of current practice, attitudes, and desired resources. Frontiers in Genetics. 2019;10. doi:10.3389/fgene.2019.01189

Genetic Screening: Ancestry-Based – Boston Medical Center

Consensus Panel on Genetic/Genomic Nursing Competencies. Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators. 2nd ed. Silver Spring, MD: American Nurses Association; 2009.

Greco KE, Tinley S, Seibert D. Essential Genetic and Genomic Competencies for Nurses with Graduate Degrees. Pittsburgh, PA: International Society of Nurses in Genetics (ISONG); 2012.

My Family Health Portrait – Centers for Disease Control and Prevention

The Jackson Laboratory Clinical and Continuing Education

Understanding Genetics: A New England Guide for Patients and Health Professionals. Chapter three; Pedigree and Family History Taking