“It’s scary but empowering”: Access to genetic testing expands in El Paso
At 34, Robin Krasne’s aunt died of breast cancer. Her father and grandfather died of brain cancer. For her uncle, it was pancreatic cancer. For her cousin, ovarian cancer. “I have way too much cancer in my family lineage,” Krasne said.
Between 5-10 % of cancers are hereditary, according to the American Cancer Society. “I thought, ‘that sounds like my family,’” she said.
Krasne was certain she’d inherited genetic mutations like BRCA 1 and BRCA 2, which put both women and men at higher risk for breast, pancreatic, colon and ovarian cancers. Years ago, she asked her ob-gyn to receive genetic testing, “more for confirmation,” Krasne said, but her doctor always talked her out of it.
Each time Krasne went in for her annual exam, her gynecologist “would say, ‘there’s so much that can be done now for breast cancer, maybe that information would weigh you down more than help you.’”
In the end, Krasne decided she wanted that information. “If you know that there’s something that is a threat in your world, like a car accident, then you take steps to prevent it, like wearing a seatbelt or not speeding. If you have knowledge, you have the opportunity to act proactively.”
“It’s scary, but empowering,” she said.
Recently, Krasne has sought to expand other El Pasoans’ access to genetic knowledge. On behalf of her synagogue, Congregation B’nai Zion, she received a $10,000 grant from the Jewish Community Foundation to bring more genetic testing to El Paso via a Georgia-based nonprofit called JScreen.
Affiliated with Emory University, JScreen subsidizes the cost of reproductive and cancer screening and offers patients genetic counseling via phone or video to help them understand — and, crucially, act — on the results.
“We want our panel to be actionable, meaning that if somebody tests positive, there’s steps that they can take to increase their screening, or have preventive options, that really is going to be beneficial to them in the future,” said Emily Goldberg, a genetic counselor at JScreen.
B’nai Zion will cut that subsidized cost in half for anyone living in El Paso and Las Cruces-area ZIP codes, bringing the total out-of-pocket cost — which includes the two tests and genetic counseling — to about $325, or roughly $175 if covered by insurance.
“And if anyone has a greater (financial) need, then they can contact us and we could consider purchasing the program for them,” Krasne said.
JScreen was founded in 2013 by a Jewish couple who gave birth to a child with a rare genetic disease called Mucolipidosis Type IV. The progressive neurological disorder causes death in early adulthood and is more common among Ashkenazi Jews, people with Eastern and Central European Jewish heritage.
Though JScreen was founded to provide reproductive screening for people in the Atlanta area of Ashkenazi Jewish descent, who are at higher risk of many hereditary cancers and other genetic diseases, it has expanded to cities across the country and now offers screening to people of any background, regardless of their family health history.
That’s more access than what’s currently allowed by many health insurance plans, which have increased coverage over the years, but won’t always fund testing without a close family history of genetic disorders. Medicare, for example, will cover genetic screening only for patients who have had cancer before, Goldberg said.
In contrast to accessible commercial testing programs such as 23andMe, JScreen and its partner lab Invitae are HIPAA compliant, protecting health privacy and requiring a doctor’s approval before someone can get tested.
This lack of access has implications for people from marginalized groups: Because people with European or Caucasian ancestry have to date received more genetic screening than Mexican American or African Americans, for example, these groups aren’t as genetically well documented, said Brittanie Morris, a genetic counselor working with McGovern Medical School at UTHealth Houston.
“There’s a definite need for increased diversity in our genetic testing population. So our knowledge of what genetic conditions are more prevalent among non-European populations, including people with Mexican ancestry, could be limited,” Morris said.
This means that people from minority groups are more likely to receive uncertain results known as “variants of unknown significance,” which according to Morris are more often than not benign, but can nevertheless cause emotional distress or frustration.
But as more people from marginalized backgrounds receive genetic screening — assuming they consent to contributing their anonymized health data to large-scale studies — the more scientists will understand about the genetic risks and traits common to these groups.
El Paso, where eight in 10 people have Hispanic or Latino heritage, could contribute to that scientific understanding.
Both Goldberg and Morris recommended that people seeking genetic testing first contact their doctor, and attempt to consult with a genetic counselor trained to interpret test results, help patients emotionally process those results and then act on them.
Krasne, meanwhile, cautioned that people interested in genetic testing also consider the potential impact on their access to life insurance plans.
The results of Krasne’s blood test were not what she expected: she had no known genetic mutations that put her at higher risk of cancer. “There was relief,” she said, but that hasn’t stopped her from undergoing regular mammograms and colonoscopies. A negative test result does not rule out other forms of cancer, which are not inheritable but instead can result from environmental exposures or mere chance.
“I’m going to live in a state of heightened awareness regardless — it is just on the front of my mind,” she said.
A few weeks ago, Krasne took JScreen’s test, a process that involves spitting into a tube and sending a saliva sample by mail to a testing lab. She’s waiting for her results. With the rapid advancement of genetic testing capabilities, the news could be different this time. A decade ago, when Goldberg started as a genetic counselor, “we could test for like 18 conditions,” she said. “Then it was 36. And then it was 96. And now it’s more than 200.”
Krasne isn’t just testing for herself, though. “I’m concerned for my kids, too, and I’m concerned for, in the future, my grandchildren. I want to know what we’re passing on. But I think there’s a lot of power in that knowledge.”