Nara Abrams turned 35, had a hysterectomy and went into menopause all in the same day.
By choosing that surgery and a double mastectomy, many might assume she had cancer; in fact, she was trying to prevent it, making her part of a growing group known as "previvors."
"It's a very bizarre thing. You are a healthy person and you go in for a prophylactic surgery," said Ms. Abrams of Thornhill, north of Toronto. "I would never have imagined this would have been me."
Ms. Abrams had the operations after a saliva sample taken last year sealed her genetic fate. She learned she carried a BRCA1 genetic mutation, putting her at high lifetime cancer risk – 70 per cent for breast and up to 40 per cent chance for ovarian – despite no family history.
She took part in a study that revealed that 1 per cent of Jewish women in Ontario carry the genetic mutation. But more than half those women – including Ms. Abrams – would not meet the criteria in current provincial guidelines to be eligible for genetic testing.
No one in Canada or the United States does BRCA testing based on ancestry.
Recognizing that Jewish women are at significant risk of those two cancers – but many are ineligible for genetic testing in Canada – Women's College Hospital Foundation is planning to use its philanthropic dollars to pay for up to 5,000 more female Ontario residents to undergo screening. In doing so, it has provided one of the rarest moments in science: study results prompt instant action.
"We want to make sure that people who want the test get it," said Steven Narod, senior scientist at Women's College Research Institute and a study author. "We want to prevent cancer."
Once women learn they have genetic mutations, they have choices: specialized screening to help detect cancer in its early stages, drug therapy to help reduce the risk or prophylactic surgery to reduce risk severely.
In this study, the screening of 2,080 Jewish women in Ontario led to the identification of 22 women with BRCA1 or BRCA2 genetic mutations. Eight additional women – sisters, mothers, daughters and aunts of those who tested positive – were also found to have mutations, bringing the total number of identified women to 30, according to results published in the Journal of Clinical Oncology.
The mutations would not otherwise have been discovered in 12 of those women because they did not fit guidelines in Ontario or most of Canada. Typically, only those who are referred by a physician and have a strong family history of the disease or who have a history of those two cancers are eligible. While another 10 women who tested positive for BRCA mutations would have qualified, none were referred by their health-care provider.
Health-care providers have generally underestimated the significance of a family history of breast cancer on the father's side. However, further testing of families of the 22 who were positive for the mutation showed that more than half of the women inherited it from their fathers.
"Women don't understand it can be passed through a father," said Kelly Metcalfe, lead author of the study and adjunct scientist at Women's College Research Institute. "Physicians don't [always] know that, either."
The decision to screen has considerable implications for families: if a woman tests positive, she inherited the genetic mutation from a parent. That means her children run a 50-per-cent chance of carrying the gene, as do her siblings.
Women who test positive for the mutation, but do not have cancer, used to be known as unaffected carriers. But Sue Friedman, executive director of the group Facing our Risk of Cancer Empowered, [FORCE], changed all that and labelled them Previvors – women who survived a predisposition – an enduring term that has become part of the cancer lexicon.
"They kind of felt like they were marginalized," Ms. Friedman said in a telephone interview from San Antonio, Tex., where she was attending a conference last week. "They did not fit into the survivor community, or the healthy community."
Ms. Friedman was at higher risk of having the breast cancer mutations simply due to her Jewish ancestry.
One in 100 of the Jewish women studied carried the genetic mutation, according to the report. That compares to an estimated one in 400 individuals in the general population who carry a mutation in BRCA1 or BRCA2.
Women of Ashkenazi Jewish ancestry, a group with mainly Central and Eastern European ancestry, are at increased risk. And, while this Canadian study was open to all Jewish women in Ontario, many of those affected were Ashkenazi.
The vast majority of Canada's Jewish population is Ashkenazi: 327,360 out of a total of 370,055 according to figures from Charles Shahar, chief researcher of the national census project for UIA Federations Canada. About half – 165,175 of the Ashkenazi Jewish population – live in Toronto.
As for Ms. Abrams, a founding director of a charity, she learned she inherited the gene from her mother, who died of leukemia two years ago. She chose surgery, and in April had a hysterectomy and in July, a double mastectomy.
"It's not the choice for everybody. For me, personally, I couldn't live with that fear of uncertainty, just waiting for cancer to happen," said Ms. Abrams, a mother of two. "I needed to remove the fear."
The test is relatively inexpensive to do. At $25 per patient, it cost about $50,000 to find 30 mutations. However, those costs do not include added costs of genetic counselling, laboratory technician time and doctor consultation times.
It is provided at no cost to patients. However, only those who live in Ontario, are willing to travel to Toronto and are aged 20 to 70 are eligible.
To enroll, call 416-351-3795 or visit the website at http://www.womensresearch.ca/jewishstudy.