“My mother has cancer and her sisters passed away due to it. I have the BRCA1 mutation, increasing my risk of cancer, but this cancer cycle will end with me. My children have been spared,” she told TOI from her room in Jaslok Hospital.
Five years ago, Hollywood actor Angelina Jolie had undergone operations to remove her breasts and ovaries after she was diagnosed with both the BRCA1 (BReast CAncer gene) and BRCA2 mutations that heighten the risk of several forms of cancer, particularly breasts and ovaries. Among men, it increases the risk of breast, pancreatic and prostrate cancer.
In Swayam’s case, IVF specialist Dr Firuza Parikh and her team of geneticists used pre-implantation genetic testing and transferred only those embryos without the BRCA1 mutation into the 37-year-old’s womb. “With IVF, we managed six embryos for Swayam,” said Parikh who runs the FertilTree-Jaslok International Fertility Centre. While two embryos were not viable, two carried the mutation and the remaining two didn’t.
Parikh, who has used PGT to help couples have kids without genetic conditions such as thalassemia, said Swayam’s case is the first in India where the threat posed by oncogenes was removed. “Worldwide, PGT has been used to keep out BRAC1 & 2 genes in roughly 150 cases,” she added.
Roughly, eight million children are born across the world every year with birth defects due to genetic reasons. “Genetic abnormalities can result from a small mutation in just one gene. But PGT can play a role in preventing birth defects,” said Dr Parikh.
Swayam Prabha married Bengaluru-based IT professional Debashis Panigrahi in 2010, just a few months before her mother was diagnosed with ovarian cancer. “As my mother’s sisters, cousins and an uncle had cancer, doctors at Tata Memorial Centre in Parel asked me and my siblings to undergo a genetic test for oncogenes,” she said. Only she had the BRCA1 gene and was advised to follow Angelina Jolie-like operations to remove her breasts and ovaries.
“I wanted to ensure that my husband’s family has a healthy baby, so I waited before taking such a drastic step,” she said. When she met Parikh for the first time in December 2016, she was advised not to undergo any removal surgery.
“Angelina Jolie had both BRCA 1 and BRCA2 genes that increased her chances of cancer. But Swayam only has one mutation and there are chances that she won’t get cancer despite the mutation,” said Parikh.
When contacted, Ahmedabad-based Dr Manish Banker, former president of the Indian Society for Assisted Reproduction (ISAR), said PGD/T are done by only a handful of IVF centres in urban areas. “Five years back, PGD cost double of what it does now at Rs 15,000-20,000 per embryo. It increases the chances of a pregnancy in IVF cycles, and is advisable if the woman is older,” said Dr Baker, adding that he uses the technique roughly 80 times a year.
Mumbai-based IVF specialist Dr Ameet Patki, former ISAR secretary-general, said PGD/T is helpful for parents whose child could have an incapacitating disease such as Down’s Syndrome or Duchenne’s Muscular Dystrophy. “Using PGD for BRCA mutations is a grey zone,” he said.