Angelina Jolie made front-page news when she listened to her genes and opted for a preventive double mastectomy. She did so because she carries a faulty gene, “which sharply increases my risk of developing breast cancer and ovarian cancer,” so she told the world. The procedure brought down her risk of breast cancer from 87% to a less scary 5%.
What did not make the front page, at least in India, was the US Supreme Court ruling that human genes cannot be patented. The ruling effectively terminated the patents of Myriad Genetics on BRCA1 and BRCA2, two genes that lead to breast cancer. Angelina had one of these mutations.
According to the USA Today: “The decision represents a victory for cancer patients, researchers and geneticists who claimed that a single company’s patent raised costs, restricted research and sometimes forced women to have breasts or ovaries removed without sufficient facts or second opinions.”
The ruling liberates the specific test from patent bindings and makes it cheaper and more accessible. For all those who were planning to follow Angelina’s example, this may offer an opportunity to give it another thought, get “sufficient facts or second opinions.”
All in the genes
Spit into a little container, fill up a questionnaire, pay the fees and, there, you have the story of your life, as told by your genes. That is the magic, nay, science of personal genomics.
It is the study of a person’s individual genome. The human genome is made up of 3.2 billion base pairs of deoxyribonucleic acid, better known as DNA. A fragment of the DNA, a gene is a hereditary unit at the molecular level. Each gene bears the codes for a certain protein, which makes an organism function. Scientists sequence and compare the DNA of an individual to a reference sequence in a process known as genotyping.
Genes differ from person to person because of changes or mutations in their chemical structure. These differences can tell if a patient is at risk of a disease or is likely to respond differently to a specific medicine.
For example, a study conducted by the Indian Genome Variation Consortium (IGVC) revealed that people in Punjab, Haryana and Kashmir have a natural immunity to HIV/AIDS. Salbutamol, a popular drug used to treat asthma does not work so well on the natives of Rajasthan as it does on the people of Tamil Nadu.
Sardar Patel University of Gujarat is in the midst of a study to unravel the genome specific to Indians. The project will look at the genes of three Indians—one each from North India, South India and the Northeast.
It will be a while before matrimonial advertisements in India start asking for “gene scopes” rather than horoscopes. Yet, Dr Saleem Mohammed, co-founder and CEO of Chennai-based Xcode Life Sciences, expects “genetic assessment tests will soon be just as common in India” as they are in developed economies.
Along with their physical and psychological traits, parents pass on certain genetic risk factors to their children. Lifestyle and environmental factors add to these risks as the child grows up. Xcode offers “prevention programmes” based on DNA analysis.
Even before the court ruling on patents, the cost of lining up all three billion pairs of DNA bits in a set of human chromosomes has been declining.
Delhi-based Nutragene claims to have “customised its genetic tests for Indians by taking advantage of a significant pool of biomedical studies pertaining to genetic risk and disease within the context of the Indian population.”
For $99, US-based 23andMe provides “reports on 240+ health conditions and traits, testing for 40+ inherited conditions, (helps you) discover your ancestry composition (and gives) updates on your DNA as science advances.” The company urges you “to discover your unique history from over 750 maternal lineages and over 500 different paternal lineages. Each lineage is accompanied by a story detailing the adventures of your ancestors, carefully curated by 23andMe scientists.”
The New York Times quoted Dr Kenneth Offit, chief of the clinical genetics service at Memorial Sloan-Kettering Cancer Center: “Many academic labs, including our own, will soon be offering panel tests for dozens, or even hundreds of genes, for the same price Myriad historically charged for just two genes.”
The report also quoted Sherri Bale, managing director of GeneDx, a testing company: “It levels the playing field; we can all go out and compete. This is going to make a lot more genetic tests available, especially for rare diseases.”
Speaking to this writer, Dr Saleem Mohammed of Xcode said that it was “too early” to say if the ruling would have any impact on India, given that “most gene patenting happens in the US.” At the same time, he observed that the ruling “left enough room” for companies to conduct research work.
Patent your creation, not nature’s
Those who challenged Myriad Genetics in the Supreme Court had argued that Myriad was attempting to get a monopoly over natural phenomena. Myriad countered this by pointing to the “human ingenuity” involved in isolating the genes.
What the Supreme Court has done is strike a balance, unanimously deciding that synthetically produced genetic material can be patented, but naturally occurring DNA cannot be. While others are celebrating “victory”, in its press release Myriad has stated: “…the Supreme Court of the United States upheld its patent claims on complementary DNA, or cDNA. However, the Court ruled that five of Myriad’s claims covering isolated DNA were not patent eligible. Following today’s decision, Myriad has more than 500 valid and enforceable claims in 24 different patents conferring strong patent protection for its BRACAnalysis® test.”
The patent battles may rage on, the ruling may make gene-reading cheaper, but we are some way from tweaking genes to remedy the faults and produce perfect, disease-resistant human specimens. For now, personal genomics helps to pinpoint the susceptibility level of a person to a particular disease. This knowledge can help the physician suggest lifestyle changes or timely medical interventions to nip the predicted disease in the bud or to minimise its impact—the kind of prevention that Angelina opted for.
Personal genomics has great potential in prenatal diagnosis of chromosomal imbalances and specific mutations in Mendelian diseases (like sickle-cell anemia and cystic fibrosis). The science will also help doctors understand new genetic diseases.
Rise of the genes
The sixth annual Future of Genomic Medicine conference, held in the USA in March this year, concluded on a positive note about the future of “genomically informed medicine”. “With the price of sequencing dropping to costs amenable to regular clinical use, the question now is not if, but how, genomic information will be integrated,” the speakers opined. The current ruling should help speed up the integration.
The question that remains is when genomic medicine will be able to free itself of all ethical, legal and commercial entanglements.
Did Angelina take a hasty step? Or did she simply give us an early glimpse of genetically enlightened humanity?
This is the updated version of an article commissioned and published by By The Way magazine.