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Primary care providers (PCPs) can provide pretest consent for many genetic tests through a 15-minute to 30-minute targeted discussion or by a brief communication (discussion) and educational materials when management is straightforward.
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This model of PCPs providing pretest consent for straightforward testing situations improves access to genetic testing.
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Pretest and posttest genetic counseling by a licensed/certified genetic counselor should be considered for conditions with a high risk for
Genetic Testing: Consent and Result Disclosure for Primary Care Providers
Section snippets
Key points
Pretest communication
The education and testing consent process is an important step in the genetic testing sequence. Genetic tests can have implications for patients that are different than for many other types of clinical testing and screening, such as prediction of a later-onset disorder or exacerbation of presenting symptoms. Results may also be associated with treatment recommendations that may be unexpected for the patient, and results often have implications for others in the family.
Aligning pretest communication with results disclosure
Depending on the test under discussion and the individual patient, communication of important information may occur in the pretest communication or the posttest communication. In general, most genetic test results can be returned to patients through a targeted or a brief discussion. Complex testing methods and genetic disorders associated with intricate management recommendations or significant psychological risk can complicate the disclosure process. Pretest genetic counseling by an L/CGC in
Results disclosure
Genetic test results are far from binary. Although a positive (or pathogenic) result can confirm a clinical diagnosis, a pathogenic result may also be associated with a previously unknown disease risk. This risk can complicate the discussion because risk for disease is different from a diagnosis and can be difficult to understand for both patient and clinician. A crucial component of the results disclosure process ensures patients can understand the personal implications of the result. Whether
Summary
PCPs are playing an increasing role in the provision of genetic testing by working with genetic counselors to understand the key points necessary for informed consent and the key points for results disclosure. PCPs can leverage their relationships with their patients to determine the level of pretest and posttest communication that will benefit the patient and increase access to genetic testing. There is a limited number of conditions for which testing is known to be associated with
Case example
Listed here are examples to outline the interplay between pretest and posttest discussion.
BRCA1 and BRCA2 testing of a woman at increased risk caused by known familial mutation. Pretest consent was a brief discussion that did not include discussion of management. The patient has high medical literacy, already knows a lot about the condition based on family experience, and has no history of anxiety. Posttest discussion of a pathogenic variant should be a targeted discussion to include familial
Acknowledgments
This work was possible because of the work of members of the ClinGen CADRe workgroup: Kyle Brothers, MD, PhD; Adam H. Buchanan, MS, MPH, LCGC; Mildred Cho, PhD; Erin Currey; Miranda L.G. Hallquist, MSc, LCGC; Laura Hercher, MS, CGC; Louanne Hudgins, MD, FACMG; Seema Jamal, MSc, CGC, CCGC; Dave Kaufman, PhD; Howard Levy, MD, PhD; Nicole Lockhart, PhD; Kelly Ormond, MS, LCGC; Alice Popejoy, PhD; Erin Ramos, MPH, PhD; Myra Roche, MS, CGC; Maureen Smith, MS, CGC; Melissa Stosic, MS, CGC; Wendy
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Disclosure: The work in this submission was funded by the NIH National Human Genome Institute 1U01HG007437.