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Should preventing harmful heritable mutations from being passed on be publicly funded?
This Toronto couple could have had kids without medical help. But they wanted to spare their child from inheriting a genetic mutation. As it happens, they also spared the province a lot of potential health care costs. Should cases like theirs be publicly funded?
5 minute read
Lorne and Jaclyn Rembach could have had kids without any medical intervention. They were in their early thirties and fertile. But they didn't want their children to inherit a genetic mutation that almost killed Lorne.
At the time of the couple's first date, in January 2016, Lorne didn't know he had a health issue. But just a few days later, the Toronto teacher was playing basketball after school with some students when he suddenly went into cardiac arrest. He was 26 years old.
Doctors discovered that he had a neuroendocrine tumour, known as a "paraganglioma", and that it was wrapped around his aortic valve. They wanted to remove it, but the surgery would be extremely technically challenging, both because of its location and because it was releasing adrenaline.
"They actually told me they couldn't do it," says Lorne. "So they put a pacemaker-defibrillator in and just said that I'll have to live with this for now."
He got regular injections to counteract the adrenaline and he was assessed for a heart transplant. But when his medical team found an American doctor who could advise on removing the tumour, they flew the expert up and went ahead with surgery. In September 2016, Lorne underwent a complex 11-hour procedure that involved a triple bypass and tumour resection.
And that wouldn't be his last surgery. Within half a year, a scan turned up a cancerous growth in his kidney. That too was removed, in April 2017.
He returned to work in September that year, after a 20-month absence.
The couple married in 2019. But they had already decided not to try for children the usual way. What they had learned through Lorne's ordeal was that his tumour and kidney cancer had been caused by a rare genetic mutation, called SDHB. People with the mutation are predisposed to tumours and cancers.
Lorne's father had had melanoma and a paraganglioma, but no one had connected the dots. After Lorne's health issues, testing revealed that both his twin and his younger brother have the mutation as well. SDHB is autosomal dominant, meaning that any child of a person carrying the mutation has a 50 percent chance of inheriting it.
Lorne and Jaclyn thought that was too high a risk for their future offspring. So they decided to create embryos using IVF then screen them for SDHB using a technique called preimplantation genetic testing for monogenic disorders (PGT-M). That is a test that scours cells taken from an embryo to see if they have the specific mutation.
In order to do that, they had to have a special probe made to detect exactly the mutation that Lorne carried. That involved taking blood and saliva samples from Lorne, Jaclyn and Lorne's parents. Then they had to biopsy each of their embryos and have the biopsied cells sent away to be tested using the probe. All the embryos were kept frozen pending the test results, and only the ones without the mutation would be deemed suitable for transfer.
In 2020, Lorne and Jaclyn began their journey to parenthood. On their first round of IVF, three embryos reached blastocyst stage and could be tested, but all had the mutation. On their second round, two out of the three embryos were free of the mutation, but neither led to a pregnancy. On their third round of IVF, nine embryos reached the blastocyst stage. Four were healthy.
One of those healthy embryos was transferred last autumn. In May, their son was born.
Jaclyn says they were glad to have had the option. They saved for it and their families helped out too. "We're lucky that we've been able to do it and had support to be able to do it," she says. "But what if people don't?"
Approximate costs to them of preventing mutation being passed on to one child (CAD):
$8,000 - probe (one-off cost; probe can be used again)
$0 - IVF medications ($2,000 x 3 but covered by Lorne's drug plan at work)
$28,460 - IVF (first round covered by the Ontario Fertility Program; then $14,230 x 2)
$7,000 - PGT-M ($3,500 x 2 because they bundled some testing)
$7,500 - embryo transfer fee ($2,500 x 3)
$1,440 - embryo storage fee (first year free; $480 x 3 because each cycle is billed individually; they have just decided to donate the unhealthy embryos from cycles one and two to research.)
$52,400 - total
That's a lot of money for an individual family to pay. Most people could not afford that. Those people will have no choice but to go ahead and take their chances.
But here in the civilized world of socialized medicine, their chances are our chances. It's in our collective interest that people are able to avoid mutations that will significantly impair health and wellbeing.
Simply from an economic point of view, it makes sense. Lorne could have died of this at age 26, at the very start of his most productive years. As it happens, his life was saved, but his medical expenses cannot have been insignificant:
many weeks of hospitalization
extensive testing by multiple specialists
implantation of pacemaker-defibrillator
expert surgeon paid to come up and advise
11-hour triple bypass surgery and removal of tumour
surgery to remove kidney cancer
regular monitoring and screening by specialists for the rest of his life
And that does not even take into account mental suffering.
To not support people who want to prevent all that in the next generation seems short-sighted.
Jaclyn, on the medical care that Lorne will continue to need: "My husband gets screened multiple times a year. He has to have CT scans, ultrasounds, echocardiograms — he literally gets monitored every three to six months. And if we had decided to just go forward and have a child, you know, the natural way, that baby would also have to move forward with that protocol of intense screening and surveillance for their entire life. It's a diagnosed condition but there was no support or funding."
Lorne, on having screened for the gene before having a family: "We're saving the taxpayers and the government thousands of dollars a year, per person."
I'm sure there are edge cases, where it's not clear we should spend large public sums to avoid a specific genetic condition. But it seems to me that theirs is not an edge case. And I know SDHB is just one of many such non-edge cases.
Should there be more public funding for PGT-M?