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New At-Home Genetic Test Shows Risk Of Multiple Types Of Cancer
A company whose goal is to identify those at risk for cancer has developed a way to screen for more than 60 cancer susceptibility genes. The work is being done at Emory Medicine’s department of human genetics. GPB’s Ellen Eldridge has more.
A national public health initiative based out of Emory University School of Medicine’s Department of Human Genetics recently announced a new program that offers at-home testing for 63 cancer susceptibility genes associated with hereditary risks for breast, ovarian, prostate, colorectal, skin and many other cancers.
If a person gets a positive result, that means they have a mutation in one of these genes, Assistant Professor of Human Genetics at Emory University School of Medicine and JScreen Executive Director Karen Arnovitz Grinzaid said.
She said the program provides convenient and affordable access to cancer genetic testing, which will help save lives.
“Knowledge is power," she said. "With an understanding and awareness of their risks and available options, individuals can work with their health care providers on next steps.”
The $199 test kit is recommended for people who could be at risk for carrying a hereditary mutation such as BRCA1 or BRCA2, which are both associated with breast cancer.
Dr. Veena Rao, professor of obstetrics and gynecology at Morehouse School of Medicine, has been studying the BRCA1 gene since its discovery in 1994. Mutation of this gene leads to triple negative breast cancer and the mortality for African American women has been high, she said.
Socioeconomic status also plays a role, Rao said, because women without access to health care may not learn about the cancer until after it's had time to spread, at which time the cancers are more often deadly.
"It's all early detection," Rao said. "And if you have a family history, then you can get tested early to see whether that particular mutation is there in the family."
Dr. Jane Meisel, the medical director for JScreen’s cancer program, said when people don't have a strong family history of cancer or a personal history of cancer, insurance wouldn't cover genetic testing.
So, JScreen and Emory’s Winship Cancer Institute launched the Atlanta PEACH BRCA pilot study in July 2019, to look at Ashkenazi Jews who don't have a family history of cancer.
"A lot of the mutations are found disproportionately in Ashkenazi Jews," Meisel said. "But what we're learning as we test more and more people, particularly young women, who are diagnosed with breast cancer ... we actually are finding a little bit of a higher prevalence in the Black community as well, and also in some Hispanic communities."
From 2013 to 2017, Black women had a 40% higher mortality rate than white women. This disparity is magnified among black women under 50.
This at-home testing is important, Meisel said, because it alerts people to their risks before they get cancer.
"They can then take action to help prevent cancer altogether or to detect it at an early, treatable stage,” she said.
Importantly, licensed genetic counselors provide information via phone or secure video conferencing to ensure that people understand their results.
"It really helped these patients," Meisel said. "(The test kit) empowered them to understand their risk and then be able to tell family members, 'Hey, I tested positive for this mutation. Maybe you should get tested, too.' And in doing so, this can actually save lives."