Every genetic counselor knows the struggle of trying to explain our profession succinctly at a cocktail party. “No, I don’t make designer babies, heh, heh,” says one. “I’m like a translator, but for science — and with empathy!” says another. Since I started working in a cancer clinic, this one-liner has worked best: “I help people understand if cancer runs in their families, and then I help them decide what to do if it does.”
Stated that way, it sounds pretty simple. Yet in some circumstances, it’s not, because there may be obstacles to involving a patient’s relatives in the genetic counseling process. Family members can be spread across geographical boundaries, estranged from one another, or not know where their health records are stored. Some physicians are hesitant to refer a patient to a genetics clinic without some clear family history of cancer. And some insurers don’t see the need for a healthy individual to make an appointment at a cancer center.
But as genomic testing is used more broadly in care settings, family involvement in genetic counseling and testing should be a key part of the process — a necessity, not an afterthought. Accurate family history information is necessary to assess disease risk and may even reveal that the patient in front of you is not the right person to test. Testing the correct person in a family can increase the chances of getting a meaningful result. Relatives may also be tested when a patient’s results are difficult to interpret; those results can help determine if a genetic variant is associated with disease in a family. Perhaps most obviously, when genetic testing reveals a diagnosis, so-called “cascade” testing can be used to identify relatives who are at increased risk of disease. Cascade genetic testing, used to identify which individuals might (or might not) need heightened screening, preventive surgery, or a specific drug, is an example of precision medicine.
Again, it all sounds pretty simple, but it’s not. The default position in clinical medicine is to make patients responsible for informing their relatives about their risk of genetic disease. This position is based on healthcare providers’ primary duty to respect individual patient privacy. Discussions between a provider and a patient’s relatives could pose a threat to this sacrosanct value. Therefore, most reflection on the involvement of family members in genetic medicine has focused on the complexities patients face when they try to talk about genetics at home. While many patients want to tell their at-risk relatives about their genetic testing process, some do not, and for a host of reasons: guilt, estranged relationships, disease-related stress, or a lack of confidence in their ability to discuss genetics accurately at the dinner table.
As genomic testing is used more broadly in care settings, family involvement in genetic counseling and testing should be a key part of the process — a necessity, not an afterthought.
Family communication about genetics is a valuable area of study, and there may be more we can do to empower patients to talk about genetics at home. Professional guidelines mainly address the uncommon scenario in which a patient categorically refuses to share genomic information with relatives. Guidelines stipulate that healthcare providers can help patients communicate about genetic information with their families and may breach patient confidentiality in situations where a “duty to warn” at-risk relatives is apparent. But it is not clear what such assistance should look like or how hard providers must work to give it. Nor is it clear which circumstances would trigger a “duty to warn” in practice. Genetic information, after all, rarely signals a risk of imminent harm.
We should revise this default orientation for two main reasons. First, the growing use of next-generation sequencing tests has made it necessary to be more specific about when testing is useful. The concept of “clinical utility” is a contested one; however, in practice most measures of clinical utility still exclude the familial implications of genomic testing. This remains the case even though identifying a patient’s relatives who are at an increased risk of genetic disease can radically alter the recommended age and frequency of disease screening for those individuals. In addition, it is cheaper to cascade-test relatives who might carry a specific disease-predisposing mutation that runs in their family than it is to run an entire next-generation sequencing panel for that individual. For example, a full sequencing of a handful of colorectal cancer genes can cost between $1,500 and $4,000, while targeted testing for a known familial mutation usually costs at-risk relatives between $275 and $400. To maximize the value and minimize the unnecessary cost of genomic testing, family involvement will be key.
In the precious hour that I am lucky enough to spend
with them, they tell me detailed stories about their families and express hope that their test results will help others.
Second, norms of information disclosure are becoming more nuanced as both patients and clinicians routinely use digital tools to capture and share personal information. While it will always be important to maintain patient privacy, there are now ways of linking information about a patient’s increased risk of familial disease without divulging the affected relative’s entire health record. Clinicians can and should be involved in developing and testing these tools so they can proactively encourage their use with confidence. Some centers are also developing informed consent protocols that ask patients to name a trustee (often a family member), who will be the steward for their genomic information after they die. It would not be a massive stretch to develop similar protocols allowing patients to authorize the release of restricted information to relatives in the event of receiving a positive test result.
Many of the patients I see have advanced-stage cancers that hereditary genomic testing cannot fix. In the precious hour that I am lucky enough to spend with them, they tell me detailed stories about their families and express hope that their test results will help others. Given the growing number of uncertain results and clinically actionable incidental findings, we cannot afford to modernize our health systems with a purely individualistic medical ethic in mind. While geneticists and genetic counselors have grappled with the need to reach out to patients’ family members for years, the issue may not be at the forefront of the minds of non-genetics providers, payers, hospital administrators, or health IT specialists. As genetic counselors, we must broaden the conversation about what we do to include them.