Angelina Jolie hit the news headlines in early 2013 by announcing her decision to go for elective double mastectomy after testing positive for mutated BRCA1. People from around the world suddenly came to know about ‘ Predictive Genetic Testing’. The impact was really big. A retrospective study performed at a Toronto hospital in 2014, for example, reported that the number of women referred for genetic counseling skyrocketed by 90 percent in the six months after Jolie’s announcement. The number of women at the hospital identified as BRCA1 or BRCA2 mutation carriers during that period jumped by 110 percent.
Why Predictive Genetic Testing is important
“Error” in our genes (called “mutations”) can cause disease and predictive genetic tests help to confirm the disease probability in advance.
- Determine whether you would get Cancer or other chronic illness in future
- Determine whether your unborn child is prone to genetic disorders like Downs’Syndrome
- Preimplantation genetic diagnosis (PGD) can prevent a couple from having a sick child
- For couples who worry about passing along hereditary illnesses
- For children with diseases like autism, genetic testing can inform their pediatrician of specific contributing genetic factors influencing the severity of their illness.
- From infants to teens, parents can use genetic testing to confirm or rule out a suspected diagnosis
- Help in avoiding unnecessary clinical investigations
- Help in taking preventive measures to reduce the risk and severity of the disease in the future
Finally, Preventative care is the best solution for successfully treating or avoiding future illness
Predictive Genetic Testing ?
Predictive genetic testing is the use of a genetic test in an asymptomatic person to predict future risk of disease. These tests represent a new and growing class of medical tests, differing in fundamental ways from conventional medical diagnostic tests. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention. The results of a genetic test confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. Based on description provided by NIH we can sub-divide Genetic testing into seven types.
Newborn screening is used just after birth to identify genetic disorders that can be treated early in life
In this case genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms
Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions.
Prenatal testing is used to detect changes in a fetus’s genes or chromosomes before birth.
Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder.
Predictive and presymptomatic testing
Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life.
Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease.
How the test is performed:
To perform genetic test, one need to provide sample of blood, saliva, hair, skin, amniotic fluid, or other tissue. A number of different methods exist for fast and reliable testing of our DNA. Different tests use different types of samples. Doctor will decide which sample will be used. Scientists will then use this sample to check for specific genetic changes. The tests mostly check DNA, RNA, chromosomes, proteins or metabolites for these changes.
Anne wojcicki founded 23andMe in 2006—with the backing of an impressive list of investors including her husband, Sergey Brin, and the company he then ran, Google—she has been working toward two goals: bringing the power of genetic testing to everyday consumers so they can better manage their own health care, and using the aggregated data from those tests to help doctors, scientists, hospitals, and researchers discover new cures for diseases that emanate from troublesome genetic mutations. Wojcicki has deep pockets, having raised more than $126 million since 23andMe’s inception, with Yuri Milner, the Russian billionaire.
Statement from Angelina did a great deal for 23andMe. On that day Anne received many calls and inquiries. This helped Anne and her firm. But then in 2013 23andMe ran into trouble with FDA. But in 2015 they relaunched their product in the market. The claim ‘using just a few drops of spit, can tell you if you’re a carrier for dozens of diseases’. The tests are available at a prize range of 150-199$.
It was in 2013, the same time when Angelina shared with the world the new diagnostic route to disease identification, Anuradha Acharya, the CEO of Ocimum Biosolutions launched ‘MapMyGenome’. Mapmygenome started as India’s pioneering Personal Genomics Company with a vision to “Touch 100 million lives and save a million lives by 2030.” Mapmygenome India offers a variety of services in the domains of personal genomics, molecular diagnostics, DNA forensics and brain wellness. Their products and services can even be purchased from their stores online and through their e-commerce partners. Recently they launched Genomepatri Lite, a lighter version of their flagship product Genomepatri on February 26, 2016. Priced at INR 15000 or US$199, Genomepatri Lite gives your genetic predisposition to lifestyle, metabolic, cardiovascular, ocular, skin & hair, orthopedic, gastro, and gender specific conditions.