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March 12, 2020

The Ethics of Delivering Precision Medicine—Pretest Counseling and Somatic Genomic Testing

Author Affiliations
  • 1Division of Hematology/Oncology, Department of Medicine, University of California, San Francisco
  • 2Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts
  • 3Section of General Internal Medicine, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts
  • 4Department of Health Law, Policy, and Management, Boston University School of Public Health, Boston, Massachusetts
JAMA Oncol. Published online March 12, 2020. doi:10.1001/jamaoncol.2020.0016

In the new era of precision medicine in cancer treatment, many oncologists use patient tumor genomic (somatic) data as part of routine clinical practice.1 Cancer clinical trials are increasingly stratified by genomics, which requires the detection of specific genetic alterations in the tumor to consider patients eligible for treatment with novel targeted and immune-based therapies. While somatic tumor testing is useful to guide treatment decision-making, it can also reveal the presence of germline variants, which have broader clinical implications for both patients and their families. Rates of identifiable germline DNA damage repair variants vary by cancer site. They affect more than 10% of patients with cancer, equivalent to more than 40 000 patients with newly diagnosed cancer in 2019 alone.2 However, pretest education for somatic tumor testing is not a standard practice, and therefore patients may not be aware of the possibility of uncovering germline variants through somatic testing.

Pretest Counseling in an Era of Precision Medicine

Genetic counselors are trained to counsel patients prior to germline genomic testing, and their education and skills could be readily adapted to the setting of somatic genomic testing. From the patient perspective, uncovering incidental findings and being overwhelmed with information are important barriers to somatic testing.3 These barriers may be particularly salient among racial/ethnic minority patient groups because medical mistrust and fears of discrimination may impede the use of genetic testing more generally. Standards of practice and systems must support appropriate use of counseling regarding somatic and germline genetic testing to prevent the widening of disparities in their uptake among diverse patients.

Ideally, all patients would receive genetic counseling and education from a genetic counselor prior to somatic testing because of the possibility of uncovering hereditary genetic alterations. However, this is of limited practical relevance in many settings because of a scarcity of licensed cancer genetics personnel and the need for timely testing to guide treatment. Yet, training for and adoption of pretest genomic counseling among nongenetic counselors remain suboptimal. Physicians have varying levels of knowledge on how to interpret genomic information, and studies of cancer physicians report low confidence and high uncertainty in counseling about genetic testing findings.4 One study among practitioners offering BRCA testing services indicated that 56% (45 of 81 respondents) had no genetics training, and only 17% reported always scheduling a pretest counseling session.5

A Coordinated, Ethical Approach to Managing Somatic Testing

Although extensive pretest counseling by qualified personnel would be ideal, the practical realities of staffing and health care costs may make this an unrealistic goal.6 Therefore, health care systems need to balance ethical obligations to patients with workforce capacity and adequate access to timely testing. We offer 3 core recommendations for the process leading up to and following somatic tumor testing, along with existing resources for patients and clinicians that may be helpful in implementing these recommendations expeditiously (Table):

Table.  Sample Resources for Patients and Health Care Systems to Improve the Use of Somatic Testing in Patients With Cancer
Sample Resources for Patients and Health Care Systems to Improve the Use of Somatic Testing in Patients With Cancer

  1. At a minimum, both the benefits and risks (including incidental findings of germline variants) should be covered by clinicians who are recommending somatic tumor testing. This material should include the downstream consequences of identifying germline variants with respect to future testing, financial implications, and insurance coverage. The National Society of Genetic Counselors offers a series of relevant courses, including a course on clinical and laboratory perspectives on somatic genetic testing that includes case examples of common counseling dilemmas. Clinician education can be complemented by patient-focused educational materials that serve diverse audiences in learning about genetic and genomic tests and their implications.

  2. Behavioral and social science research should be leveraged to inform the creation of clinical practice tools that support positive outcomes. Research on the most effective ways to interpret and communicate somatic testing results to minimize undue anxiety and negative outcomes is urgently needed. While this evidence accumulates, clinicians can foster good communication about testing using shared decision-making as a patient-centered approach to brief counseling. The Agency for Healthcare Research and Quality offers a clinician reference guide on the SHARE approach, a 5-step process that uses the patient’s preferences and values to weigh the benefits, harms, and risks of health care decisions (Table). To empower patients and families to communicate genetic testing results, especially incidental germline findings, genetic counselors at the University of California, San Francisco, developed Kintalk, a web-based resource devoted to education and family communication regarding hereditary cancer conditions. The website provides letter templates that can be used to share information with family members.

  3. Health care systems must have coordinated processes that span test referral, pretest counseling, communication of results, posttest counseling, and treatment. First, practices need to determine which tests will be offered as standard in a given practice. The American Society of Human Genetics offers a virtual meeting, “Genetics in Your Clinic: What You Can and Should Do Now,” that covers various genetic technologies available. Although the specific strategies for counseling and communication of results will be resource dependent, facilitating understanding of the broader meaning of results should be a core activity of posttest counseling, given the long-term implications of a potential germline variant or a variant of unknown significance. This should include linkages with appropriately trained genetic counselors, who are best trained to understand and communicate these results.

Precision medicine is a beacon of hope for patients, and we now have a path to deliver on these promises. Achieving the goals of precision medicine requires appropriate counseling and support, personnel resources, and deployment of relevant expertise. Without this foundation, we risk patients forgoing genetic testing and thus not maximizing their chances of obtaining effective treatment. Moreover, we may increase patient anxiety and negative psychosocial outcomes. We urge clinicians, health care systems, and professional organizations to adopt standards on the use of somatic testing so that we uphold the ethical ideals of medicine and fulfill the promise of precision medicine in oncology.

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Article Information

Corresponding Author: Hala T. Borno, MD, Division of Hematology/Oncology, Department of Medicine, University of California, San Francisco, 1825 4th St, San Francisco, CA 94158 (hala.borno@ucsf.edu).

Published Online: March 12, 2020. doi:10.1001/jamaoncol.2020.0016

Conflict of Interest Disclosures: None reported.

References
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Gray  SW, Hicks-Courant  K, Lathan  CS, Garraway  L, Park  ER, Weeks  JC.  Attitudes of patients with cancer about personalized medicine and somatic genetic testing.  J Oncol Pract. 2012;8(6):329-335. doi:10.1200/JOP.2012.000626PubMedGoogle ScholarCrossref
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Gray  SW, Hicks-Courant  K, Cronin  A, Rollins  BJ, Weeks  JC.  Physicians’ attitudes about multiplex tumor genomic testing.  J Clin Oncol. 2014;32(13):1317-1323. doi:10.1200/JCO.2013.52.4298PubMedGoogle ScholarCrossref
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Vadaparampil  ST, Scherr  CL, Cragun  D, Malo  TL, Pal  T.  Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.  Clin Genet. 2015;87(5):473-477. doi:10.1111/cge.12405PubMedGoogle ScholarCrossref
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Paller  CJ, Antonarakis  ES, Beer  TM,  et al; Prostate Cancer Clinical Trials Consortium Germline Genetics Working Group.  Germline genetic testing in advanced prostate cancer; practices and barriers: survey results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.  Clin Genitourin Cancer. 2019;17(4):275-282.e1. doi:10.1016/j.clgc.2019.04.013PubMedGoogle ScholarCrossref
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