Until a few weeks ago, content creator Sidney Raskind was best known for posting “life hacks” and light-hearted quips online about being in his 30s.
Now he’s the social media star who found out he has a rare stomach cancer because of a twist of fate that prompted him to get a genetic test.
Raskind and his wife were expecting their second child last year when a scan at around 26 weeks revealed that the baby was developing without a brain because of a condition called holoprosencephaly. She didn’t survive.
The couple sent DNA samples to a laboratory in hopes of finding answers to her birth defect. They didn’t get any – but the tests did show she had an unusual gene mutation that, in recent years, has been linked to a rare, hereditary form of stomach cancer.
When Raskind and his wife underwent genetic testing of their own, he had the same mutation, a deletion of the protein-coding gene CTNNA1.
A few days later, Raskind became one of nearly 969,000 people worldwide to be diagnosed with stomach cancer every year. Less than one per cent of these cases are inherited, or passed from parent to child.
Most patients with the malignancy – known as hereditary diffuse gastric cancer – are diagnosed at later stages, once it’s harder to treat.
But Raskind didn’t have any symptoms, and because his doctors found it so early, he’s optimistic about his chances of destroying the cancer before it can colonise his body.
He expects to undergo surgery to have his stomach removed in July.
“It’s just such a crazy chain of events,” Raskind, who lives in Los Angeles and goes by Sidney Raz online, told Euronews Health. Now, he’s living in “terrestrial limbo,” which he says is “incredibly difficult”.
Most cancers are caused by a combination of our environments, lifestyles, age, and simple bad luck, with only 12 per cent linked to gene changes that run in families. Perhaps the most famous are the BRCA genes; mutations raise the risk of breast and ovarian cancers, among others.
Cancers affecting the uterus, intestines, pancreas, skin, and prostate can also be inherited.
The chance that cancer “is caused by a genetic predisposition is higher at the age of 30 than, for example, if you’re 60 years old,” Richarda de Voer, an associate professor of cancer genomics at Radboud University Medical Centre in the Netherlands, told Euronews Health.
Predictive testing can be life-altering for people who discover they have inherited, cancer-causing gene changes.
Not everyone who has gene mutations will go on to develop cancer, but high-risk patients may be offered anything from frequent screenings to catch any signs of creeping disease to operations that remove the cancer-prone tissue, such as a preventive mastectomy or Raskind’s stomach surgery.
The challenge is getting the right people the right tests at the right time, because oncologists say simply testing everyone’s genetic code is more likely to hurt than help.
“This is not the rich keeping it for themselves, but it’s rather that that we do not have good medical evidence to offer it to everyone,” Dr Benedikt Westphalen, a cancer doctor in Munich and chair of the precision oncology working group at the European Society for Medical Oncology (ESMO), told Euronews Health.
How doctors decide who to test
Genetic tests that assess someone’s inherited cancer risks are different from genetic testing done on tumours, which look for changes that happened throughout a cancer patient’s lifetime.
Anyone can go to a private lab for preventive genetic testing, but whether someone is offered this in their doctor’s office depends on which type of cancer runs in their family, as well as their age and the gene affected.
In Raskind’s case, his diagnosis opened the door for other relatives to be checked for the genetic mutation. He said at least one, his older sister, came back negative.
Raskind and his wife are waiting to test their daughter, who has a 50/50 chance of having the gene deletion, until she is older because “we don’t want to put a two-year-old through that”.
“Just to know that we can look for this kind of thing is an incredible insight,” Raskind said. “My family wasn’t big on testing before this, so I’m pretty much the guinea pig for it all”.
These tests are more advanced than the type sold online, like the now bankrupt 23andMe.
It’s not easy to offer them broadly because making sense of the results is tedious, time-consuming, and requires high-level expertise – and because a great deal about our genes still remains a mystery.
For each test, a medical geneticist must comb through troves of data, and while they might identify cancer-causing mutations, they might also find “variants of unknown significance,” which is an inconclusive result that means researchers haven’t clearly linked the gene changes to cancer risks.
“There is this grey area,” Westphalen said, but “making the decision can have life-altering consequences”.
“If you tell someone that he is carrying a [cancer-causing mutation], and there is a chance that this goes to the children, or has already gone to the children, you better be sure that there is something or not,” added Westphalen, who is also medical lead of precision medicine at University of Munich.
Pros and cons of genetic testing
There are also logistical and ethical questions. Widespread genetic testing would be expensive, all screenings come with the risk of complications, no test can identify every high-risk mutation, and they can return false negatives or false positives.
Because few cancers are hereditary, many people would undergo that burden but only a few would actually learn they are at risk of cancer – or another condition, Westphalen said.
The calculus on whether to offer broad-based screening for any health issue, he said, comes down to a simple ratio: “What’s the number [of people] needed to test to pull someone out who benefits from a very intense workup and diagnostic screening?”
Even among people who are clear candidates for genetic testing, though, cutting-edge screenings aren’t always available.
And as scientists learn more about the relationship between our DNA and cancer risks, more genes are added to the panels – meaning a clean result today might not be in a few years.
The European Union is now funding research into how to make genetic tests easier to use and more affordable, in a bid to improve early detection and diagnosis of cancers that run in families.
One of the goals will be to identify which groups of people could benefit most from these tests.
Back in the United States, Raskind is also advocating for genetic testing in videos posted to his 1.2 million Instagram followers – in between his usual content on life and fatherhood.
“Genetic testing led me to this diagnosis,” Raskind said. He wants people to know that “you can survive and you can thrive afterwards”.
