A St. John's woman is urging others to learn more about genetic testing because for her family, it led to a discovery that saved her mother's life — but a Newfoundland and Labrador geneticist says the provincial waiting list is "unacceptably long."
Kristina Ennis and her mother, Lorraine, discovered around 20 years ago that a gene mutation runs in their family, one that can cause a rare stomach cancer called hereditary diffuse gastric cancer.
The discovery, says Kristina Ennis, was only possible because one of her family members underwent genetic testing.
But wait times to receive routine genetic testing and assessment in the province can take up to seven years says the head of the provincial medical genetics program.
"Our wait times are unacceptably long," said geneticist Lesley Turner in a recent interview. "It is a major concern of ours in terms of trying to serve this population."
Seven-year wait time
About 20 years ago, Kristina Ennis said her aunt, Marge Pittman, wanted to make a family tree, but when she was looking into the family's history, she noticed a lot of relatives had died of cancer and wanted to know more.
Pittman consulted the province's genetics office, says Ennis, and was presented with nine pages of information about her family's medical history. Ennis says Pittman was then tasked with finding her one living cousin who was eligible and willing to undergo genetic testing.
Ennis says the test results were a life-saving discovery.
"She did the genetic testing … and we identified the gene that way," said Ennis. "And my aunt kind of went to work on educating our family members about this very rare gene that we had discovered here in Newfoundland."
Ennis says the discovery led a significant number of her immediate and extended family members to have their stomachs removed, to prevent the rare stomach cancer from developing. One of these people was her mom, Lorraine Ennis.
"It's been life-changing in the most positive, positive way," said Ennis.
Ennis urges people to know as much as they can about their family's genetic history but says she knows the process to receive genetic testing or assessment can be long.
Turner said there are two geneticists and nine genetic counsellors working in the provincial medical genetics program, along with a dietitian and some administrative support. It's a relatively small group serving the province, she says.
The program has a triage process that prioritizes urgent referrals, such as prenatal assessments, but the wait time for routine referrals can be up to seven years.
"I think really just with the advances in technology and increasing referrals, our resources haven't kept pace with that," said Turner.
Another reason wait times are so long is that genetics is far different from other medical specialities, says Dr. Kathy Hodgkinson, an associate professor of clinical epidemiology at Memorial University.
When one person receives genetic testing, says Hodgkinson, their results can lead to discoveries that affect many other people, as happened with the Ennis family.
"The burden in terms of numbers is incredible," says Hodgkinson, who has also worked as a genetic counsellor and researcher for decades, "which leads to an incredibly long wait-list."
Hodgkinson says this numbers game gets particularly interesting when it comes to Newfoundland and Labrador. This is because the province is what's known as a "genetic isolate," says Hodgkinson, meaning its population is very closely related genetically — if one person undergoes genetic testing, the results could affect many others who are genetically similar.
"So as an isolate, then, we have lots of some genes, and none of others," said Hodgkinson. "For the lots of the genes that we have, we are at great strength to be able to find out what those genes do."
Protecting genetic data
Chandra Kavanagh, the director of medical technology group Bounce Health Innovation, says Newfoundland and Labrador's genetically similar population is not only of interest in a healthcare setting, but also to large corporations.
For example, says Kavanagh, if two people have completely different genomes and one of them has a heart condition, it's very difficult for researchers to determine exactly what is causing the condition. But if two people are closely related genetically and only one of them has a heart condition, it's far easier to pinpoint the genetic difference causing the heart problem.
While this genetic data is important when studying various health conditions, Kavanagh says it's also valuable to large corporations, such as pharmaceutical companies, that are looking to create drugs or therapies that target certain health issues.
"Researchers want access to this data, private companies want access to this data, big pharma wants access to this data," said Kavanagh. "So it's something that we're going to need to think about moving forward."
Genes are what make individuals who they are, says Kavanagh, so there are many ethical concerns regarding who should have access to this data. For instance, she says one of these concerns could be potential data breaches, which the province experienced last year when patient and employee personal information was stolen in a cyberattack on the province's health-care system.
"We as a community and as a community that has very similar genetics need to decide, who do we want to have collecting this information, in control of this information?" said Kavanagh. "I think what we can't do is just allow those decisions to be made for us."
Knowledge is power
After waiting years to receive genetic testing, says Kavanagh, someone could come back with pages of documents from geneticists that are very challenging to understand. She says this can be overwhelming for some, so she encourages people to learn more about genetics before doing any tests or assessments.
Even one gene can have a significant impact on one's health, says Hodgkinson, as happened in the Ennis family. That's why protecting and understanding more about genetic data is so important, says Hodgkinson — it can help save lives.
"We share our DNA with every living thing on the planet," said Hodgkinson. "It can't be owned by individuals. It is shared by all humanity and by all flora and fauna. And we have to treat it with respect."