Genomic Testing for the Healthy Individual

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.

CME Information and Disclosures

Activity Overview
Precision Medicine for Your Practice: Genomic Testing for the Healthy Individual (CME)

Original Publication Date:  January 6, 2018
Renewal Date: January 6, 2021
Expiration Date: January 6, 2024

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

• Assess the significance of different types of genomic test results in healthy people
• Assess whether, and in what way, results are actionable
• Communicate with patients about their motivations and concerns about genomic test results

Target Audience
This activity is designed to meet the educational needs of practicing physicians who provide primary care.

Accreditation Statement
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Credit Designation Statement
The American Medical Association designates this enduring material for a maximum of .50 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Multimedia Contributors

• Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
• Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
• Sean C. McConnell, PhD, Senior Policy Analyst, Health & Science, American Medical Association
• Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
• Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
• Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory

Disclosure Statement
Unless noted, all individuals in control of content reported no relevant financial relationships.

References

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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. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement. Genet Med. 2016; 19(2):249-255.

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.

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

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

Kirkpatrick BE, Rashkin MD. Ancestry Testing and the Practice of Genetic Counseling. J Genet Counsel. 2016; 26(1):6-20.

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Lu JT, Ferber M, Hagenkord J et al. Evaluation for genetic disorders in the absence of a clinical indication for testing: elective genomic testing. J Mol Diagn. 2019; 21(1), pp.3-12.

Lupo PJ, Robinson JO, Diamond PM et al. Patients’ perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. Pers Med. 2016; 13(1):13-20.

Mavaddat N, Michailidou K, Dennis J, et al. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet. 2019; 104(1):21-34.

National Comprehensive Cancer Network Guidelines. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2021. 11/2/2020.

National Comprehensive Cancer Network Guidelines. Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2020. 11/2/2020. 

Ostergren JE, Gornick MC, Carere DA et al. How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study. Public Health Genomics. 2015; 18(4):216-224.

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.

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. 

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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 and Continuing 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.