Genomic Testing for the Healthy Individual (CNE)

Precision Medicine for Your Practice is a series of short (30 min), online modules covering specific topics in genomics and precision medicine. In this module, Genomic Testing for the Healthy Individual, providers will learn how to assess the significance of results from different kinds of consumer genomic tests, recognize if, and in what way, these results may be medically actionable, and communicate with patients about their motivations and concerns. There are five parts of the module: overview via an animated video; practice cases to facilitate learning-by-doing; "dig deeper" for more in-depth topics; and logistics and additional resources for more detail.

To claim credit, follow the steps in the learning path.

CNE Disclosures

Original Publication Date:  January 19, 2018
Last Update:  January 4, 2024
Expiration Date: September 14, 2024

Learning Outcome
Upon completion of this educational activity, the learner will be able to:

• Facilitate patient knowledge of a wide range of genomic tests to support understanding of implications

Target Audience
This activity is designed to meet the educational needs of practicing nurses, advanced practice nurses, physicians and physician assistants who provide primary care.

CNE Approval Statement
The Jackson Laboratory is co-providing this continuing nursing education activity with the American Medical Association and Scripps Health. This nursing continuing professional development activity was approved by the Northeast Multistate Division Education Unit, an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation.

In order to claim credit 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 4 out of 5 questions correctly and 4) complete the evaluation.  

Nurses are eligible for a maximum of .50 contact hours upon the completion of this activity.

Contributors

• Emily Edelman, MS, CGC - The Jackson Laboratory
• Therese Ingram, MA -  The Jackson Laboratory
• Kalisi Logan, MS, CGC - The Jackson Laboratory 
• Mylynda Massart, MD, PhD - University of Pittsburgh Medical Center Primary Care Precision Medicine Center
• Laura Nicholson, MD, PhD -  Scripps Health
• Kate Reed, MPH, ScM, CGC - The Jackson Laboratory
• Linda Steinmark, MS, CGC - The Jackson Laboratory
• Laura West, PhD - The Jackson Laboratory
• Tracey Weiler, PhD -  Florida International University
• Janet K. Williams, PhD, RN, FAAN - University of Iowa

Conflict of Interest Disclosure
Unless otherwise noted, the program planners and faculty do not have a financial interest/arrangement or affiliation with any organizations that could be perceived as a real or apparent conflict of interest in the context of the subject of this course.  All educational material has been peer-reviewed by external reviewers to assess for bias.

The following disclosures are reported that could be perceived as a real or apparent conflict of interest in the education program:

Kalisi Logan is an advisor for Igentify. Janet Williams is a stockholder in Pfizer. Ms. Logan’s and Dr. Williams’ contributions were peer reviewed by non-conflicted team members and modified as needed according to the results for the review to remove any commercial bias.

References

The All of Us Research Program Investigators. The "All of Us" Research Program. N Engl J Med. 2019; 381(7):668-676. 

American College of Medical Genetics and Genomics. Clinical utility of genetic and genomic services: a position statement. Genet Med. 2015; 17(6):505-507. 

American College of Medical Genetics and Genomics. Direct-to-consumer genetic testing: a revised position statement. Genet Med. 2015; 18(2):207-208. 

American College of Medical Genetics and Genomics. Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG) [published correction appears in Genet Med. 2021 Jul 23;:]. Genet Med. 2021;23(11):2027-2028. 

American College of Medical Genetics and Genomics Board of Directors. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019; 21(7):1467-1468. 

Bean LJH, Scheuner MT, Murray MF, et al. DNA-based screening and personal health: a points to consider statement for individuals and healthcare providers from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(6):979-988. 

Blout Zawatsky CL, Bick D, Bier L, et al. Elective genomic testing: Practice Resource of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):281-299. 

Bunnik EM, Janssens ACJW, Schermer MHN. Personal utility in genomic testing: is there such a thing? J Med Ethics. 2015; 41(4):322-326. 

Carey DJ, Fetterolf SN, Davis FD, et al. The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research. Genet Med. 2016; 18(9):906-913. 

Casalino S, Frangione E, Chung M, et al. Genome screening, reporting, and genetic counseling for healthy populations. Hum Genet. 2023;142(2):181-192. 

Christensen KD, Bell M, Zawatsky CLB, et al. Precision Population Medicine in Primary Care: The Sanford Chip Experience. Front Genet. 2021;12:626845.  

Cochran M, East K, Greve V, et al. A study of elective genome sequencing and pharmacogenetic testing in an unselected population. Mol Genet Genomic Med. 2021;9(9):e1766.  

Hackmann M, Addie S, Alper J, Beachy SH. Exploring the Current Landscape of Consumer Genomics. Washington, D.C. National Academies Press. 2020. 

Haverfield EV, et al. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 Aug 18;19(1):199.  

Kumuthini J, Zick B, Balasopoulou A, et al. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Hum Genet. 2022;141(11):1697-1704. 

Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 2020; 12(1). 

Linderman M, Nielsen D, Green R. Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium. JPM. 2016; 6(2):14-29. 

Lindor NM, Thibodeau SN, Burke W. Whole-Genome Sequencing in Healthy People. Mayo Clinic Proceedings. 2017; 92(1):159-172. 

Lu, J.T., Ferber, M., Hagenkord, J., Levin, E., South, S., Kang, H.P., Strong, K.A. and Bick, D.P. Evaluation for genetic disorders in the absence of a clinical indication for testing: elective genomic testing. The Journal of Molecular Diagnostics. 2019; 21(1), pp.3-12. 

Majumder MA, Guerrini CJ, McGuire AL. Direct-to-Consumer Genetic Testing: Value and Risk. Annu Rev Med. 2021;72:151-166. 

Mavaddat N, Michailidou K, Dennis J, et al. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. The American Journal of Human Genetics. 2019; 104(1):21-34. 

Miller DT, Lee K, Abul-Husn NS, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(8):100866.  

National Comprehensive Cancer Network Guidelines.  Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 3.2023. 2/13/2023. 

National Comprehensive Cancer Network Guidelines.  Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2023. 5/30, 2023. 

Park JK, Lu CY. Polygenic Scores in the Direct-to-Consumer Setting: Challenges and Opportunities for a New Era in Consumer Genetic Testing. J Pers Med. 2023;13(4):573. Published 2023 Mar 23. 

Savard J, Hickerton C, Metcalfe SA, Gaff C, Middleton A, Newson AJ. From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing. AJOB Empirical Bioethics. 2019; 11(1):63-76. 

Schwartz MLB, Buchanan AH, Hallquist MLG, Haggerty CM, Sturm AC. Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first. J Genet Couns. 2021;30(3):634-644.  

Sirugo G, Williams SM, Tishkoff SA. The Missing Diversity in Human Genetic Studies. Cell. 2019; 177(1):26-31. 

Tandy-Connor S, Guiltinan J, Krempely K, et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med. 2018; 20(12):1515-1521. 

Topol E. Individualized Medicine from Pre-womb to Tomb. Cell. 2014; 157(1):241-253. 

Vassy JL, Christensen KD, Schonman EF et al. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients. Ann Intern Med. 2017; 167(3):159-70. 

Vassy JL, Davis JK, Kirby C, et al. How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation. J Gen Intern Med. 2018; 33(6):877-885. 

Wan L, Li Y, Zhang Z, Sun Z, He Y, Li R. Methylenetetrahydrofolate reductase and psychiatric diseases. Transl Psychiatry. 2018; 8(1). 

Wasson K, Sanders TN, Hogan NS, Cherny S, Helzlsouer KJ. Primary care patients' views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study. J Community Genet. 2013; 4(4):495-505. 

Hardware/Software Requirements
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 

Check the supported browsers.

Should you have technical questions or questions regarding the content of the activity, please email Clinical Education at the Jackson Laboratory.

Disclaimer 
All information in Precision Medicine for Your Practice is provided for educational purposes only. This information is not a substitute for clinical guidance or the consultation of a medical professional. Always seek the advice of a qualified health professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in Precision Medicine for Your Practice. Reliance on any information in Precision Medicine for Your Practice is solely at your own risk. The Jackson Laboratory does not endorse or recommend any specific procedures, tests, products, services, health professionals or other information that may be found in Precision Medicine for Your Practice.