Surgical strike
How can one prevent against cancer? By removing the trouble-making gene before it enters the world. Amrita Singh on a new medical miracle — the first babies to be born in India without a hereditary cancer-causing gene
When Firuz aP arikh first met Bengaluru-based Swayamprabhaand De bash is Pa ni gr a hi at her clinic in Mumbai’ sJ as lok Hospital, the couple was in the throe sofa dilemma. S way amp rab ha had already suffered three miscarriages. In addition, she was dealing with the burden of her family’ s history of cancer. Her mother was battling ovarian cancer and her uncle prostate cancer. She had already lost her two maternal aunts to breast cancer. This tough medical history made Swayamprabha, now38, apprehensive about bringing children into the world. After months and knocking on the doors of hospitals in Ben ga lu ru, the couple finally turnedtoParikh, who is director of the F er ti lT ree J as lok International Fertility Centre .“Will I pass on the burden of disease tomychildren?” wasone ofthe first questions S way amp rab ha asked Parikh.
Thatwastwo-and-a-halfyearsago, and one particular anxiety has been put to rest now. S way amp rab ha delivered twin boys last month, on July 20, free of the hereditary cancer gene, in the first instance of this kind of medical intervention in India. There are only about 140 other such cases across the world.
Given her family’ s medical history, S way amp rab ha had been advised to get herself screened. She was found to carry the BRCA1mutation, whichmakesher susceptible to cancer soft he breast and ovaries. She was then advised to have her breasts, ovaries and uterus removed to reduce the chance of cancer. However, she wanted to have her own baby but was, at the same time, keen that the cancer cycle end with her .“I have seen my mother and relatives go through the pain of cancer. I can go through the pain myself but I don’ t want this for my children ,” says Swayamprabha.
Ever since she tested positive for the “cancer gene”, Swayamprabha has been taking multiple blood tests every six months to check for cancer. For two years after getting married in 2009, she could not decide if she wanted to conceive at all. “Our doctors in Bengaluru told us that science is improving and your child may not even get cancer till the age of 25, based on my medical history,” Swayamprabha recalls. However, after her miscarriages, the couple began losing hope as doctors suggested they wouldn’t be able to conceive naturally.
That was the point at which they decided to turn to the fertility centre at the well known hospital in Mumbai. After waiting for two months to get an appointment with
Parikh, Swayamprabha’s course of treatment began, lasting almost 18 months. “Pa rik hg ave me the confidence Ineeded. Shemademegetall kind softest sand screenings. We just blind ly followed her advice,” says Swayamprabha.
In vitro fe r ti lisa ti on, commonly known as IV F, is a 40- year-old technology that assists reproduction in cases where chances of doing so naturallyarelow. Whilethe technology was developed to help in fertile couples conceive, today it can be used to address genetic or hereditary disorders as well. Intra-Cytoplasmic Implantation( I CS I) along with Pr e-Implantation Genetic Testing (PGT) gave S way amp rab ha what she had beenwishingfor.
According to Parikh, the environment’s interaction with DNA in the human body has increased vulnerability to diseases such as cancer. While DNA is in a constant process of repair, the smallest mutation, a result of incorrect “repair”, can lead to mental and physical disorders. PGT becomes helpful in screening the embryo for genetic problems before the embryo is implanted in the uterus to decrease the burden of disease on the couple’s children.
PG Th as been available in India since 1999, and was, in fact, first introduced by JaslokHospital. Thistest, usedin conjunction with I CS I, helps increase the chance of live births in IV F cycles as it detects a ne up lo id embryos( those that have a defect in either the number or structure of chromosomes). Ahealthy embryo has 23 pairs of chromosomes without duplications, deletionsor multiple chromosome abnormalities. Aneuploid embryos are not transferred into the woman’ s body as they lead to failed implantation, early miscarriage or a child with developmental delays and congenital mal formations.
The procedure yielded six bl as to cy st stage embryos. The Pre-PGTcheck-upconducted by Pa rik hall owed her to locate the exact spot in the the mutation had taken place and a delicate biopsy of a few cells surrounding the embryo was performed by micro manipulation. These were then sent for genetic analysis. Two embryos were found healthy and free of BRAC1mutation. Theseem bryoswere implanted in S way amp rab ha’ s uterus. She was first treated with hormones to obtain an adequate number of ova or eggs that were extracted under mild anesthesia. Using the I CS I technology, a single sperm was injected into the cytoplasm of each mature egg manually in the embryology laboratory under a special microscope, fitted with a micro manipulator and a laser. This was followed by incubation to allow fer ti lisa ti on and formation of the embryo.
“One must use whatever technology one has today to offer the best healthcare possible,” saysParikh, ofthisseeming medicalmiracle. Ofcourse, noteveryonecan afford the cost of miracles—the couple spent upward sofa few lakh of rupee s to achieve this remarkable result.
SaleemMohammed, CEOofXCode Genetics, a personal ge no mi cs company basedinChennai, said the advantages of such a procedure are the elimination of the faulty gene and the ability top ass on the “good” version of the gene to the next generation .“Essentially, the embryo implanted in the woman’ s body is perfect from a genetic perspective ,” says Mohammed. ShahFahdHusami, CEOof Adam’ s Genetics in New Delhi, says the achievement of Pa rik hand her team was remarkable as those with BR CA 1 mutation had an almost 95 percent chance of contracting cancer and a minor biopsy at the embryo stage can help increase longevity.
Despite the medical achievement, however, Swayamprabha cannot rest easy. “Every time I go to the hospital and wait for the report, I feel like a ticking time bomb. Anything can happen at any point,” she says. The fact that her family stood by her is what induced a positive attitude. As Swayamprabha says, “I toldmy mother that she needs to live to seemy babies and she is fighting cancer just to see them grow.” She continues to do the same through regular screenings and the determination to live.
‘ONE MUST USE THE TECHNOLOGY ONE HAS TO OFFER THE BEST HEALTH CARE POSSIBLE’ FIRUZA R PARIKH Director, FertilTree Jaslok International Fertility Centre