The debate around genetic testing has reached a familial crossroads for Norm and Nancy, as they navigate the implications of inherited health risks. Meet this Australian family, torn apart over the choice to screen out genetic diseases. Before he and Nancy started a family, Norm was screened with DNA tests. This screening led to medical interventions that improved or saved their children’s lives. For Linda Rudman, a family member, the decision was life-changing. She learned that she is BRCA1 positive, which puts her at a higher likelihood for developing breast and ovarian cancer.
In 2019, Linda voluntarily pursued preventative genetic screening that confirmed her BRCA1 positive status. Faced with this new knowledge, she made the very difficult choice to have both of her ovaries removed. She later got a mastectomy to lower her chances of developing cancer. Her proactive approach could not be more different than her daughter Meg’s decision to refuse genetic testing for the same gene. This turn of events has left Linda “very upset.”
Norm’s personal experience with genetic predisposition started when he personally found out about his FH (familial hypercholesterolemia) diagnosis. Norm had always known that heart issues ran in his family. He always viewed it more as an academic concern until he and all of his children were found to have Type 1 familial hypercholesterolemia. His kids today live with congenital heart defects treated with lifelong medication, highlighting the need and promise of early detection.
Norm reflects on his experience, stating, “You’ve got the gene but it’s not the end of the world.” His heart was patched up soon after his diagnosis, an indication of the need to treat many genetic conditions before they develop.
The family’s conflicting opinions on genetic testing demonstrate the nuances at play in these critical decisions. Linda has instilled in her daughters the importance of pursuing genetic testing—to take it seriously, because knowledge is power. Sam, their other daughter, chose to be screened for the BRCA1 gene. As she said with great conviction, “It’s better to know than not know.” Meg’s choice not to test is worrisome—what will be the long-term impact on her health?
The discussion around genetic testing goes beyond individual health. Currently in Australia, insurers are legally allowed to ask about a person’s genetic testing results when a person applies for life insurance. Dr. Jane Tiller, a genetic counsellor, has lobbied vigorously for such regulatory change. Second, she wants to stop the use of genetic test results against American citizens.
“Life insurance companies can’t access your results directly. But it is perfectly legal in Australia at the moment for them to ask for your results and to discriminate on the basis of them.” – Dr. Jane Tiller
As Dr. Tiller points out, people with genetic conditions are particularly vulnerable to bad-faith treatment by insurers if they share their genetic information. She describes a scenario where the tests show an uptick in risk of disease, and suddenly people are denied coverage or their premiums doubled.
“If the results show that you do have an increased risk of disease in your future, they can decline to cover you altogether,” Dr. Tiller warns.
This impossibility impacts not just those interested in taking a test, but the families who are living with the burden of passed-down health hazards. Linda thinks that having people know their genetic background can help empower them to know their future health challenges and mitigate health problems down the line.
“At the end of the day … having knowledge of what you carry, genetically, gives you power,” Linda asserts.
In Meg’s case, her unwillingness to be tested is rooted in fear of discrimination in life insurance coverage. Sam points out that one of Meg’s reasons for skipping screening is the worry with what would happen with insurers if you go through with screening.
“One of her reasons to not get screened is because of the current discrimination that is happening with life insurance policies,” Sam explains.
The Family Council of Australian Life Insurance has a history of advocacy for proscriptive regulations. These regulations would protect people who make the decision to get tested for their genetic predispositions. They support policies that would guarantee nobody ever feels discouraged from taking these important tests, which lead to better health outcomes.
“We’ve long been clear about the need for strict regulation to ensure that no one is deterred from taking a genetic test to proactively manage their health,” said a spokesperson from the Council.
As Norm and his family navigate these challenging decisions about genetic testing and its implications, their experiences underscore broader societal issues regarding genetics, health management, and insurance practices.
