for the parents, their son’s death caused great concern about whether the other three children may carry the same condition. an initial ultrasound of the heart showed they don’t have a disease right now, but that doesn’t mean they can’t get the disease in the future.
so, the family is presented with two options – standard practice, or genetic testing.
the standard practice is that these children will need to be screened with an ultrasound at least once or twice a year for the rest of their lives. they’ll have to change their lifestyle and refrain from playing the sports they want to play. their family will endure anxiety and stress wondering if they’ll one day have hcm. standard practice is waiting for the heart disease to occur, and then reacting to it.
genomic testing, on the other hand, shows definitively whether or not they have a gene that indicates a predisposition to hcm.
“i imagine the impact for the future for them. the system says, ‘ok, do some [ultrasounds] of the heart and wait for the disease to occur, then you act on it,’” dr. kapoor says. “if you do genomic testing, we can see that we have the gene. if they have the gene, then they should be monitored closely. and if they don’t have a gene, you don’t have to worry about it.”
for cancer patients, genomic testing pinpoints distinct
dna changes that may be driving the tumor’s growth
. this information helps guide treatment decisions, leading to targeted therapies that attack cancer cells more effectively.