Telling Relatives About an Inherited Cancer Finding

A genetic test result is unusual in medicine. Most results describe only you. An inherited cancer finding describes your blood relatives too. That can include people you have not spoken to in years.

About 5% to 10% of cancers are caused by inherited harmful genetic changes. A positive result carries information that can help other family members make decisions about their own health care.

That is the case for telling people. It is a strong case. It is not an order.

No system contacts your relatives for you. Your genetics team will not usually phone your cousin.

Do providers have a duty to tell at-risk relatives directly? That is an unsettled ethical and legal question. The National Cancer Institute says some disclosure situations may need advice from an ethicist, an ethics committee, legal counsel, a privacy officer, or a review board. In practice, the conversation falls to the patient.

So the timing, the wording, and the order are yours to set. You may wait until you have absorbed the result yourself. You may tell one sibling and not another. You may change your mind.

This part gets skipped. It should not be.

The National Cancer Institute is direct about it. Family members may have different opinions about whether they want to learn if they carry an inherited change that raises their cancer risk.

Some relatives will be grateful. They will seek genetic counseling. Others may not want to know the result, and may not want testing. Both responses are legitimate.

The American Cancer Society puts it plainly. Even when you share your result and worry about a relative's risk, whether to be tested is their own decision.

Your job is to make the information available. It is not to decide for anyone else. A relative who says "I don't want to discuss this" has given you an answer. Pushing usually makes people less likely to act later, not more.

Cascade testing means testing relatives for the exact variant already found in your family.

It is targeted, and much simpler than the first test. The laboratory is not searching a whole panel of genes. It looks at one known spot.

What it buys is time. A relative who tests positive can start screening at the right age. For some syndromes that means colonoscopy from adolescence. For others it means breast MRI in the twenties, or a yearly whole-body MRI. Cancers found by surveillance are more often small and removable.

A relative who tests negative for the known family variant can usually follow ordinary screening instead. That relief is a real result, not a lesser one.

Close family members come first. That means siblings, children, and parents. Most inherited cancer risk follows an autosomal dominant pattern. In that pattern, each of these relatives has a 50% chance of carrying the same variant.

After that, work outward. Aunts, uncles, nieces, nephews, and cousins may all be at risk. Only one side of the family will be. Your genetic counselor can help you work out which side.

Vagueness is the enemy here. A relative told "there's something genetic in the family" can do nothing with that.

Include:

• The name of the gene where the change was found.
• The specific variant, written exactly as the laboratory reported it.
• A copy of the test report, so any laboratory can find the exact change.
• The name and contact details of a genetics service.

The written variant matters more than people expect. Without it, a relative's laboratory may run a broader and slower test. It may also miss the change.

Match the method to the relationship. For relatives you are not close to, a letter is often a good approach. For closer relatives, a phone call or a face-to-face talk may be better.

Ask your genetic counselor for a family letter. Most genetics services have a template. It states the gene, the variant, and what a relative should do next.

A clinic letter is easier to forward than news you have to write yourself. It also removes the pressure to answer medical questions on the spot.

Most inherited cancer syndromes cause cancer in adults. For those, testing children or teenagers is not recommended. There is no action to take in childhood. Testing also takes away the child's chance to decide as an adult.

The exception is syndromes that cause cancer in childhood. Testing is appropriate for conditions such as familial adenomatous polyposis (FAP), multiple endocrine neoplasia (MEN), and von Hippel-Lindau syndrome (VHL). In those, screening starts in childhood. The result changes care right away.

Not sure which group your family's syndrome falls into? Ask that question directly at your next genetics appointment.

This comes up in almost every family. Know the answer before you start.

The Genetic Information Nondiscrimination Act (GINA) became law in 2008. It protects people in the United States from discrimination based on genetic information. It covers health insurance and employment.

Health insurers cannot use genetic information to set eligibility, coverage, underwriting, or premiums. They cannot require you or your family to have genetic testing.

Employers cannot use genetic information in hiring, firing, promotion, pay, or job assignment. They cannot require genetic tests as a condition of employment.

GINA has real gaps. It is unfair to relatives to pretend otherwise:

• It does not apply to life insurance, disability insurance, or long-term care insurance.
• The military is permitted to use genetic information in employment decisions.
• It does not apply to employers with fewer than 15 employees.

Some relatives will want to review their policies first. That is reasonable. It is also why some people delay testing rather than decline it.

Not every family is reachable. Not every relationship survived. Some options:

• Ask your genetics service for a letter you can forward without adding anything.
• Send it to one relative who is in touch with the branch you are not.
• Say it once, clearly, and let it stand. You do not have to keep raising it.
• If you are estranged and want no contact, tell your genetics team. They can explain what options exist locally.

You are not responsible for what relatives do with the information. You are responsible only for whether it reached them in a form they could use.

• Which relatives should be offered testing, and in what order?
• Can you write a family letter naming the gene and the exact variant?
• At what age should testing be offered to relatives, and to any children?
• Will your service see a relative who lives elsewhere? Or should they find a local clinic?
• What should relatives know about insurance before they test?

• Genetic Testing for Inherited Cancer Risk — National Cancer Institute
• Cancer Genetics Risk Assessment and Counseling (PDQ) — National Cancer Institute
• Genetic Discrimination and the Genetic Information Nondiscrimination Act — National Human Genome Research Institute
• Talking with Family Members About Genetic Testing — American Cancer Society
• Familial Adenomatous Polyposis — MedlinePlus Genetics, National Library of Medicine