Genetic Testing in Difficult Family Relationships

Genes are shared. Families are not always shareable. If you have an inherited cancer risk and a relative you cannot safely or willingly contact, you are facing a real conflict, and it has practical solutions. This page sets out what the information is, who needs it, how little of it you have to send, and who can send it for you.

NCI estimates that 5% to 10% of all cancers come from inherited genetic changes. When one is found, it says something about your blood relatives too. NCI puts it directly: results "can reveal information not only about the person being tested but also about that person's blood relatives."

CDC calls the follow-on process cascade testing. It defines it as "the process of informing family members of a genetic condition discovered within the family, followed by family members getting tested for the condition."

CDC is specific about who to start with. "Your children, sisters, brothers, and parents are most likely to have the same genetic condition. Testing should start with them." Testing for adult-onset conditions is generally not done in children.

CDC offers ready-made sample letters for three conditions: hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia.

NCI states that "it is generally recommended that, when possible, genetic counseling and testing for a hereditary cancer syndrome begin with a family member who has had cancer."

There is a reason for that. It changes what your own result means.

If a specific harmful variant is already known in your family and you do not carry it, that is a true negative. It is genuinely reassuring.

Now suppose nobody in the family has been tested. Your test finds nothing, but the family history is strong. NCI calls that an uninformative negative. It does not rule out an inherited risk. The lab may not have looked at the right gene. Or the family change may be one that current tests cannot find.

If the affected relative refuses, or contact is impossible, you can still be tested. Go in knowing that a negative result will be the weaker kind. Ask your genetic counselor to say, in plain words, what your negative would and would not rule out.

A useful message to a relative is short and contains no personal medical history. It needs:

• The name of the gene.
• The exact variant, copied from the report.
• The name of the testing laboratory and the date.
• The name and phone number of a genetics clinic they can call.

That is enough for their own clinician to order the right test. Your diagnosis, your treatment, your prognosis, and your feelings are not required and do not have to be included.

CDC points to sample letters you can adapt instead of drafting from nothing. Ask the genetics service for theirs rather than writing one from scratch.

Your clinic will not telephone your relatives on its own. Under HIPAA, a provider may share your information with "a family member or other person involved in an individual's care or payment for care as long as the individual does not object." Only the information relevant to that role can be shared. A relative gets wider access only as a personal representative. HHS says that "generally depends on whether that person has authority under State law to act on behalf of the individual."

You can also do the opposite and direct disclosure yourself. HHS describes giving "a prior written authorization for the disclosure" that names the specific person and says where to send the information. That lets you inform one sibling without opening the file to everyone.

The refusal runs both ways. CDC says that "some people do not want to know about their risks for developing certain diseases because it will cause them too much anxiety." It advises respecting a relative who does not want the conversation. Sending the information once, clearly, is doing your part. Their decision is theirs.

Ask the genetics service to be the sender. CDC notes that genetic counselors and other providers can help notify family and set up testing. It also points to the National Society of Genetic Counselors directory.

Before anything is sent, tell the genetics team plainly if contact would put you at risk. That changes how, and whether, a letter goes out. It is a clinical fact about your situation, not an overshare.

Two practical rules. Send the same neutral text to everyone you decide to tell, so no branch of the family reads meaning into wording differences. And do not route the message through a child.

The Genetic Information Nondiscrimination Act (GINA) was enacted in 2008. NHGRI describes what it does.

For health insurance, GINA "prohibits health insurers from discrimination based on the genetic information of enrollees." Insurers cannot use it to set who is eligible, what is covered, or what you pay. They cannot require a test. This rule covers private insurers, Medicare, Medicaid, the Federal Employees Health Benefits program, and the Veterans Health Administration.

For employment, GINA "prevents employers from using genetic information in employment decisions such as hiring, firing, promotions, pay, and job assignments."

Now the gaps, which matter just as much:

• GINA "does not apply to employers with fewer than 15 employees."
• It does not cover life insurance, disability insurance, or long-term care insurance.
• The military is permitted to use genetic and medical information in employment decisions.
• State laws with stricter protections still apply, because GINA does not override them.

A relative who is worried about life insurance is worrying about a real gap. Do not tell them GINA covers it.

• Positive. The lab found a genetic change associated with increased cancer risk.
• True negative. A known family variant was looked for and was not present.
• Uninformative negative. No harmful change was found, but the family history is still strong. Risk is not ruled out.
• Variant of uncertain significance (VUS). NCI describes this as a change "for which there is not enough data available to know whether it increases the cancer risk or not." A VUS may be reclassified later as more data arrives.

Ask the lab and clinic how you will be told if a VUS is reclassified, and who is responsible for contacting you.

NCI states that genetic counseling "is generally recommended before any genetic testing for inherited cancer risk." It should be done by a trained genetic counselor. Another professional experienced in cancer genetics can also do it.

It covers how likely an inherited risk is. It covers whether testing is right for you. It covers what each possible result would mean, the effect on how you feel, and the options for lowering risk.

Clinical guidelines recommend testing after certain diagnoses. NCI lists these:

• Triple-negative breast cancer.
• Ovarian cancer.
• Pancreatic cancer.
• Colorectal cancer before age 50.
• Metastatic prostate cancer.
• Male breast cancer.

NCI also flags family patterns. These include cancer at a young age, several cancer types in one person, and several first-degree relatives with the same cancer.

• Which relative would give the most informative result, and why?
• If that person cannot be tested, what would my negative result mean?
• Can the genetics clinic write and send the family letter?
• Can I authorise disclosure to one named relative only?
• What is the minimum text a relative needs to get the right test ordered?
• Who tells me if a variant of uncertain significance is reclassified?
• Which of my relatives' insurance types are not protected by GINA?

• Genetic Testing for Inherited Cancer Risk — National Cancer Institute.
• About Cascade Testing — Centers for Disease Control and Prevention.
• Genetic Discrimination and GINA — National Human Genome Research Institute.
• Under HIPAA, when can a family member access an individual's PHI? — U.S. Department of Health and Human Services.