• Paul S Appelbaum, Deborah F Stiles, and Wendy Chung.
• Columbia University Irving Medical Center and New York State Psychiatric Institute, New York, New York (P.S.A.).
• Ann. Intern. Med. 2019 Oct 15; 171 (8): 568-572.

AbstractInternists and other physicians may be asked to participate in research studies that include genomic screening of their patients. Because genomic studies can identify many variants with potential clinical or personal implications, physicians should carefully consider the effect of participation on their patients, as well as the time and effort needed for the physicians to interpret the results and decide how best to use the information. Among the questions they will need to explore is whether testing will be done in a laboratory that is certified under the Clinical Laboratory Improvement Amendments and authorized to generate results for clinical purposes. Physicians should also determine which results will be returned and how these results are likely to affect their patients. Consent must be obtained from patients for return of results, and physicians may want to use the various informational tools that are available to help their patients through the process of deciding which results to receive. Given the complexity of genomic results, including variable penetrance and possible preventive interventions, the research study should support physicians in understanding the results and their implications for patients. Physicians should be prepared to communicate results in a manner that facilitates patients' understanding of the findings and their implications, using a communication process tailored to the needs of the individual patient. Engaging genetic counselors in helping patients understand the implications of genomic findings can be helpful because of their scientific understanding of genetic disorders, experience in dealing with patients, and training in counseling skills.

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