India's first babies to be born without a hereditary cancer-causing gene

How can one prevent against cancer? By removing the trouble-making gene before it enters the world

When Firuza Parikh first met Bengaluru-based Swayamprabha and Debashis Panigrahi at her clinic in Mumbai’s Jaslok Hospital, the couple was in the throes of a dilemma. Swayamprabha 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, now 38, apprehensive about bringing children into the world. After months and knocking on the doors  of hospitals in Bengaluru, the couple finally turned to Parikh, who is director of the FertilTree Jaslok International Fertility Centre. “Will I pass on the burden of disease to my children?” was one of the first questions Swayamprabha asked Parikh.
 
That was two-and-a-half years ago, and one particular anxiety has been put to rest now. Swayamprabha 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.
 

First ICDI is performed on the embryo

Given her family’s medical history, Swayamprabha had been advised to get herself screened. She was found to carry the BRCA1 mutation, which makes her susceptible to cancers of the 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.
 

Then a trophectoderm biopsy of five to eight cells is conducted

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. “Parikh gave me the confidence I needed. She made me get all kinds of tests and screenings. We just blindly followed her advice,” says Swayamprabha.
 
In vitro fertilisation, commonly known as IVF, is a 40-year-old technology that assists reproduction in cases where chances of doing so naturally are low. While the technology was developed to help infertile couples conceive, today it can be used to address genetic or hereditary disorders as well. Intra-Cytoplasmic Implantation (ICSI) along with Pre-Implantation Genetic Testing (PGT) gave Swayamprabha what she had been wishing for.
 
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.
 

Followed by genetic analysis

PGT has been available in India since 1999, and was, in fact, first introduced by Jaslok Hospital. This test, used in conjunction with ICSI, helps increase the chance of live births in IVF cycles as it detects aneuploid embryos (those that have a defect in either the number or structure of chromosomes). A healthy embryo has 23 pairs of chromosomes without duplications, deletions or 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 malformations.
 
The procedure yielded six blastocyst stage embryos. The Pre-PGT check-up conducted by Parikh allowed her to locate the exact spot in the chromosome where the mutation had taken place and a delicate biopsy of a few cells surrounding the embryo was performed by micromanipulation. These were then sent for genetic analysis. Two embryos were found healthy and free of BRAC1 mutation. These embryos were implanted in Swayamprabha’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 ICSI 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 micromanipulator and a laser. This was followed by incubation to allow fertilisation and formation of the embryo.
 
“One must use whatever technology one has today to offer the best health care possible,” says Parikh, of this seeming medical miracle. Of course, not everyone can afford the cost of miracles — the couple spent upwards of a few lakh of rupees to achieve this remarkable result. 
 

Saleem Mohammed, CEO of XCode Genetics, a personal genomics company based in Chennai, said the advantages of such a procedure are the elimination of the faulty gene and the ability to pass 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. Shah Fahd Husami, CEO of Adam’s Genetics in New Delhi, says the achievement of Parikh and her team was remarkable as those with BRCA1 mutation had an almost 95 per cent chance of contracting cancer and a minor biopsy at the embryo stage can help increase longevity.
 

Firuza Parikh Director, FertilTree Jaslok International Fertility Centre

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 told my mother that she needs to live to see my 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.