‘Almost a decade ago, Steve Jobs was one of only 20 people in the world to have his DNA sequenced. The cost of Jobs’ DNA sequencing was over $100,000, the New York Times Reports.’
How is it even possible? Let us explain
Our abilities in the field of genetics and DNA editing have grown with major strides in the second half of the 20th century. A milestone was achieved with the publishing of the human genome in 2001. It highlighted our capability to generate, manage, analyze and interpret genomic data – and it has only improved with time. This exponential development in our capabilities has resulted in the birth of Genomics. Advent of new technology and lower pricing ($ 100 million per genome sequence in 2001 to $1700 in 2015) has led to a phenomenal boom in not just data generation, but our understanding and leveraging of that data which in turn has led to further research and large-scale projects like the Genome-Wide Association Studies (GWAS).
GWAS has associated mutations in the DNA (specifically, Single Nucleotide Polymorphisms or SNPs) to physical traits. Numerous studies were completed and terabytes of data had been accumulated associating SNPs with diseases and conditions. This led to the evolution of the field of Personal Genomics which now allows any individual to access the information hidden in their DNA and predict their genetic risk towards health related conditions.
How does that help You?
With personalized predictive testing came whole genome sequencing. A one-time test in your life that lets you understand your genetic makeup once and for all. Unless you get bitten by a radioactive spider or are sensitive to kryptonite – we can say that this test will last you post your days in heaven as well (this information is useful for your loved ones, too!).
Relevance: Clinically speaking, this test is considered in cases of an individual when the phenotype or family history data strongly implicate a genetic etiology, but the symptoms do not correspond with a specific disorder. WES or WGS analysis of multiple genes simultaneously is a more useful and practical approach for the patient with a likely genetic disorder, but specific genetic tests available for those symptoms have failed to arrive at a diagnosis. Similarly where a fetus with a typical genetic disorder has failed to arrive at a diagnosis after targeted sequencing tests.
Benefits: This technique provides a set of “secondary findings” – a double checking mechanism which is qualitatively different than our regular day -to- day testing. Due to the vast coverage of genes in included in this test – one can potentially hope that it will provide an explanation for a patient’s phenotype. This is the last and the most extensive resort for understanding genetic mutations today. Our knowledge about the genetic database is increasing by leaps and bounds! Every error also adds value! While one person’s genome analysis may not help him/her – a database built within a community (thousands of individuals) will most definitely help understand and analyze the nitty-gritties of genetic behaviour. To further support the clinical relevance of achieving a molecular diagnosis, one should note that half of the known Mendelian disease genes – there is an indicated intervention. In other words, it would be beneficial to detect thousands of individual conditions at an early stage rather than waiting until they become clinically apparent. In summary, the availability of genomic information can be used to extract information immediately and be stored for future detection of newly discovered mutations. Furthermore, the same can also be a key to understanding the causes of health and disease.
What is available out there?
Global Market: Every leading genomics firm is moving towards acquiring the most sophisticated technologies possible. Once the demand increases – so do the products. There are approximately 40 labs across the globe with pricing all the way upto USD 30000. Countries like United States, UK, Korea, Spain, Italy, France, Canada, and Belgium are a few specks in this race.
The scenario in India: Mapmygenome has pioneered genomics in India and has been the premier provider of Whole genome sequencing at a low cost. The booming Indian population and the recent surge in health care providers have quite a few services too! An individual today does not necessarily have to send their sample for testing outside the borders. Personalized and predictive genetic testing is around; however whole genome sequencing is yet not offered by all. The lack of funds, challenges in logistics and operational issues, the absence of a sound genetic database hinder most firms from offering this unique test.
How can we help you?
Being a key player in the field of Personal Genomics in India, Mapmygenome has carved out a niche for itself. Founded in January 2013, we started as India’s pioneering Genomics Company with a vision to “Touch 100 million lives and save a million lives by 2030.” We definitely offer personalized products; but we also go above and beyond for our clientele and provide services like Whole Genome Sequencing, Whole Exome Sequencing, Clinical Exome Services.
The scientific team at Mapmygenome comprises experts with 16+ years of work experience in genomics & big data and skilled lab personnel and has expertise in mapping end-to-end genomics workflows – as evidenced in the success of our personal genomics and other services. We have a specific procedure for a client interested in getting a WGS –
- Pre- Test Counseling: Our board certified counselors speak to you, answer your queries, note down your family and clinical history. Post the session and assessment – the client is recommended to take the test.
- Post – Test Counseling: Our counselors understand that technical content can be quite overwhelming – and hence they are available over the phone, skype and in person (certain cities only) to help you interpret your results.
- Post Genetic Counseling Recommendations Report: This feedback report consists of personalized recommendations for you; with a guided health and action plan. Diet and lifestyle modifications, Screening procedures and tests are provided as well.
About the author
Dr. Pallavi Jain is part of the Scientific Team at Mapmygenome. She has a Bachelors Degree in Biochemistry with Genetics and a PhD in Molecular Medicine (UK). She recently completed an intensive course in IVF from Origio, Mumbai. She enjoys swimming and reading.