Paul S. Appelbaum, MD; Deborah F. Stiles, JD; Wendy Chung, MD, PhD
Grant Support: By grant UL1 TR001873 from the National Center for Advancing Translational Sciences of the National Institutes of Health. Drs. Appelbaum and Chung were supported by grants RM1 HG007257 and U01 HG008680 from the National Human Genome Research Institute.
Disclosures: Drs. Appelbaum and Chung report grants from the National Center for Advancing Translational Sciences and the National Human Genome Research Institute during the conduct of the study. Ms. Stiles reports support from Columbia University during the conduct of the study. Disclosures can also be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M19-1414.
Editors' Disclosures: Christine Laine, MD, MPH, Editor in Chief, reports that her spouse has stock options/holdings with Targeted Diagnostics and Therapeutics. Darren B. Taichman, MD, PhD, Executive Editor, reports that he has no financial relationships or interests to disclose. Cynthia D. Mulrow, MD, MSc, Senior Deputy Editor, reports that she has no relationships or interests to disclose. Jaya K. Rao, MD, MHS, Deputy Editor, reports that she has stock holdings/options in Eli Lilly and Pfizer. Catharine B. Stack, PhD, MS, Deputy Editor, Statistics, reports that she has stock holdings in Pfizer, Johnson & Johnson, and Colgate-Palmolive. Christina C. Wee, MD, MPH, Deputy Editor, reports employment with Beth Israel Deaconess Medical Center. Sankey V. Williams, MD, Deputy Editor, reports that he has no financial relationships or interests to disclose. Yu-Xiao Yang, MD, MSCE, Deputy Editor, reports that he has no financial relationships or interest to disclose.
Corresponding Author: Paul S. Appelbaum, MD, New York State Psychiatric Institute, 1051 Riverside Drive, Unit 122, New York, NY 10032-8630; e-mail, email@example.com.
Current Author Addresses: Dr. Appelbaum: New York State Psychiatric Institute, 1051 Riverside Drive, Unit 122, New York, NY 10032-8630.
Ms. Stiles: Mail Code 4310, 313 Low Library, Columbia University, New York, NY 10027.
Dr. Chung: Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032.
Author Contributions: Conception and design: P.S. Appelbaum, D.F. Stiles, W. Chung.
Drafting of the article: P.S. Appelbaum, D.F. Stiles, W. Chung.
Critical revision of the article for important intellectual content: P.S. Appelbaum, D.F. Stiles, W. Chung.
Final approval of the article: P.S. Appelbaum, D.F. Stiles, W. Chung.
Obtaining of funding: P.S. Appelbaum, W. Chung.
Internists 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.
Appelbaum PS, Stiles DF, Chung W. Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients?. Ann Intern Med. 2019;:. [Epub ahead of print 1 October 2019]. doi: 10.7326/M19-1414
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Published: Ann Intern Med. 2019.
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