NEW YORK (Reuters Health) – Patients who have been told that they have a relative with a genetic mutation should under “cascade testing,” the American College of Obstetricians and Gynecologists (ACOG) advises in a new Committee Opinion paper.
Increasingly, patients with ovarian, breast, endometrial and colon cancer are being identified as having relevant genetic mutations. Cascade testing involves genetic counseling and testing for blood relatives of people who have been identified with specific mutations.
“Testing protocols and other interventions may save lives and improve health and quality of life for these family members. Obstetrician-gynecologists should know who is eligible for cascade testing and should use all available resources to ensure that cascade testing is offered and occurs in a timely manner,” the ACOG Committee on Gynecologic Practice says.
To initiate cascade testing, providers need a letter or other documentation indicating that the patient’s relative has a specific genetic mutation. “The specifically indicated test should be ordered only after the patient has been counseled about potential outcomes and has expressly decided to be tested,” ACOG says in a news release.
“Ob-gyns have to be prepared for all of the steps in cascade testing,” lead committee chair Dr. Kristen Matteson, adds in the release. “Most importantly, we must help patients navigate what is often a complex and emotional process. Patients may be confused by their own diagnosis or what it means to receive a letter informing them of a relative’s diagnosis. It’s vital that ob-gyns are prepared with information and resources to help women make informed and timely choices about available options and the appropriate next steps if further testing is desired,” says Dr. Matteson.
After a patient receives their results, providers should be prepared to provide counseling on the findings, and when appropriate, recommend further testing and preventive services, the committee advises. They note that the follow-up process may include a conversation about how patients with positive results tell family members who may share the mutation. ACOG recommends that providers encourage patients with a positive diagnosis to tell relatives of the familial risk.
“At no point should a health care provider contact and notify at-risk family members without explicit permission from their patient. Sharing that information may violate the Health Insurance Portability and Accountability Act, or state laws, or both,” ACOG says in the release.
Providers should also be aware of the potential barriers to cascade testing. For example, even if tested, the index patient may have difficulty processing the information or presenting it to his or her family members. Some patients may have logistical challenges to reaching estranged or distant relatives. Limited access to genetic counseling services, as well as insurance coverage issues, are also potential barriers to completing cascade testing.
“Such barriers, however, may be overcome with health care provider awareness and participation in local and state initiatives to improve implementation of cascade testing. Resources (available within federal and state agencies, professional societies, and in advocacy and community groups) are critical to the successful implementation of cascade testing,” the committee writes.
The ACOG Committee Opinion, “Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer,” was published online December 21 in Obstetrics & Gynecology. The Society of Gynecologic Oncology has endorsed the document.
SOURCE: http://bit.ly/2Dqc3Pa
Obstet Gynecol 2017.
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