A call for cheaper genetic screening

Professor Mary-Claire King explores ways to tackle breast cancer in India

Updated - February 20, 2017 03:22 am IST

Published - February 20, 2017 12:07 am IST - Chennai

American geneticist Mary-Claire King.

American geneticist Mary-Claire King.


“We have our genes, and they are not going to change if we ignore them,” says Mary-Claire King, Professor of Genome Sciences at the University of Washington, who is best known for a path-breaking genetic discovery that has helped thousands of women make life-saving medical choices.

In 1990, she found that breast cancer — which kills more than 500,000 women worldwide every year — can, in fact, be inherited. Professor King identified the gene, BRCA1, which when mutant leads to a lifetime risk of breast cancer of 80% and ovarian cancer of 50%.

“I would like to convey to women that knowledge is power,” Professor King, a vocal advocate of genetic screening for breast and ovarian cancer risk for women over 30, told The Hindu here on Sunday. She is in the city to deliver the first lecture in a four-city Cell Press-TNQ India Distinguished Lectureship Series.While tens of thousands of women in the U.S. now annually test for mutations in BRCA1 and related genes that increase breast cancer risk, the scenario is, of course, vastly different India. Breast cancer is the most common cancer among women in India, but genetic screening, at Rs. 25,000 to Rs. 60,000, is well beyond the means of most.

However, the technology now exists in many parts of the world to carry out screening much less expensively, and “this is really an opportunity for Indian scientists to undertake collaboratively the adoption here of the most up-to-date technologies,” she said. “The intellectual capacity exists here. The scientific capacity exists here. But there hasn’t been adequate exposure to the new technologies.”

Professor King suggests that the best technologies first be applied to genetic testing for women who had been diagnosed with breast cancer or ovarian cancer. Though an opportunity to prevent the cancer had been missed, “we do have the opportunity to direct their treatment … There are now particular treatments for breast and ovarian cancer that have been developed in consequence of the biological action of BRCA1 and BRCA2.”

Another significant advantage of genetically screening a breast cancer patient is that it can provide vital information for the patient’s daughters and sisters, because each of them has a 50-50 chance of having a mutation also and they can have especially stringent surveillance, Professor King said.

In the weeks following actor Angelina Jolie’s article in the New York Times announcing her decision to have a double mastectomy as she found that she carried a BRCA1 mutation, there was a 64% spike in genetic screening.

“What happened with all this additional testing was that very few women proved to have the mutation; that’s what we want, that’s very good. Those that did [have the mutation] were then alerted to the possibilities for action, which range from increasing surveillance, to deciding to have a preventive removal of the ovaries and fallopian tubes after their childbearing is complete, to doing what Angelina Jolie did, which was to have a prophylactic mastectomy,” Professor King said.

Click here for the full interview .

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