Monika Tobin and Ben Neat, the Tobin geneticist family, recently participated in an innovative genetic screening study at Monash University. The study highlighted some disturbing health risks tied to their genetic profiles. The study revealed Tobin’s hypercholesterolaemia due to an LDLR variant and Neat’s PALB2 gene mutation, heightening his risk of certain cancers. Their stories serve to underscore the importance of genetic testing for timely intervention and lifestyle modification. This raises important ethical questions about how the use of genetic findings could affect future insurance coverage.
Tobin learned about her genetic condition when her daughter was only nine months old. As difficult as the diagnosis was, it inspired her to make deep, intentional changes to her life and health through prevention. “I found out that I have the LDLR variant, which means I have hypercholesterolaemia,” she shared. This early identification enables her to take steps that might avert complications related to high cholesterol.
Neat’s involvement in the same study was an effort to plug holes in his medical record. His findings indicated that one of the mutations in the PALB2 gene was responsible. This mutation increases the likelihood of breast cancer risk by as much as 55 percent for female relatives. “There was a slight bit of cancer on my dad’s side, but it was actually my mum’s side that carries the gene, so that was a major surprise,” Neat explained.
Impact of Genetic Findings
At Monash University, a two-year genetic screening study was coming to a close. This means that roughly one in 50 young people, or 2% of participants, carried an actionable genetic variant. Dr. Jane Tiller, a key researcher in the study, emphasized the importance of understanding what these test results mean for patients.
“We focused on really high-risk conditions that were medically actionable and that means there’s something that you can do to either prevent it or catch it early and treat it at a really early stage if you know you have risk,” – Jane Tiller
Dr. Tiller pointed out that while carrying a gene mutation does not guarantee disease, it does elevate risk factors that warrant attention. “The thinking was, ‘Just because you carry the gene you will get cancer,’ which is not actually the case,” she said.
As an example, she explained how thousands of other genetic variants might lead to a disease. These were not accounted for in the study. Additionally, there are cancer and cardiovascular disease risks that are not attributable to a defined pathogenic variant. Dr. Tiller added that if you are severely obese and a heavy smoker, you are very much at risk for developing cancer and other diseases. These factors are significant drivers of health inequities.
Lifestyle Changes and Preventative Measures
Once he discovered his genetic predisposition, all of that changed and Neat embarked on a journey to totally redefine his lifestyle. He won, losing 7 or 8 kilos and cutting back his alcohol intake. “Occasionally I do have the odd cigarette socially, and that’s something I’ve stopped,” he mentioned. These changes show that he takes responsibility for the risks that his genetic discoveries can pose.
Tobin was thankful to have gotten her diagnosis when she did, before preventive measures were no longer available. “It did take some time to process and understand what that means for me and for my daughter as well, because she’s got a 50 percent chance of having that [variant],” she said. Her newfound awareness empowers her to advocate for future newborn screenings for her future children.
Both women understand that knowledge is key in empowering them to take control of their health journeys. Neat remarked, “I think knowledge is power and you can decide what you do with that information. If you don’t want to do anything, you don’t have to.” This sentiment is quite clearly aligned with Tobin’s perspective as well.
“There’s a lot of things we can’t control in life but I feel like having that knowledge means that the things that are in your control, you have that opportunity [to address], and I think everyone deserves that,” – Monika Tobin
Insurance Concerns Surrounding Genetic Testing
Even with the benefits of genetic screening, participants must contend with possible challenges related to life insurance. As things stand now, insurers can deny an applicant coverage based on adverse findings from genetic tests. This practice imposes tremendous stress on people seeking to know their potential health dangers. The federal government committed to bringing forward legislation to ban this practice, but has yet to follow through with action.
This formidable reality poses myriad ethical concerns about how to manage this genetic information. Should people be penalized for being aware of their health risks? As Neat reflected on his experience, he noted the importance of genetic counseling: “Once you go through the process and speak to a genetic counsellor, you realise that there are a lot of benefits that come from it.”
While genetic screening is on the rise, so too is genetic discrimination. It’s important for people to understand the potential and limitations of their findings. Tobin and Neat’s stories highlight the profound benefits that genetic testing can have to inform proactive health management approaches. They shine a bright light on the immediate need to develop new, non-discriminatory practices in insurance.
