Every life has DNA which is referred to as the blueprint of life! To call DNA the blueprint of life is an analogy. As blueprint serves as a guide for something, DNA directs the construction of cells and organisms. To determine the order of sequence of four bases i.e. adenine, guanine, cytosine, and thymine is DNA Sequencing. The Human Genome Project started in 1990 and the final compilation took more than 13 years with the cost of around $2.7 billion. Surprisingly, today some company claims to have genetic testing under $100 within weeks. As the advancement in technology made it possible to reach out to common people, many start-ups companies are bursting in the market. Some companies handover these sensitive genetic data directly to the consumer (DTC). They promote their business by providing facts of ancestry, probability of genetic predisposition to certain diseases, diagnosis of hereditary disease carrier, and other phenotypic traits. Top companies in this market are Family Tree DNA, My Heritage, 23andMe, ancestry.com, Color Genomics, Counsyl, Gene by Gene, Laboratory Corporation of America, MyMedLab, and Mapmygenome India.
The US Food and Drug Administration (FDA) regulated by predicting the risk of disease development by DTC companies. However, the FDA also approved the company, ‘23andMe’ for diagnosis of 10 particular multifactorial conditions. The literature revealed that the risk of developing a certain condition does not only depends upon genetic makeup but it is highly dependent on lifestyle and environmental condition. Also, deep sequencing of the corresponding gene and multiple genes linked to a particular condition is not analyzed. Therefore, genetic data could not predict the certainty!
Whereas, clinical diagnostic genetic tests are recommended and examined by a medical expert for special circumstances. Generally, the detailed sequencing of a linked gene is analyzed in such cases. At present, FDA restricted DTC companies to practice clinical diagnostic genetic tests as well. Though some companies provide raw data to the consumer which might consist of genotypic details of Mendelian diseases or suggested by the American College of Medical Genetics and Genomics report.
The company also refuse for its accuracy and interpretation so, it cannot be used for medical purpose. Furthermore, the consumer could analyze data through another arbitrary company or publicly available databases. It again could end up in either paying money or misinterpretation.
If the condition of a clinical diagnostic genetic test is ordered by a health professional than often DTC companies negotiate for the whole sequencing. Sometimes, only one target gene could not predict the cause, results of other interlinked genes could also be predicted, understanding the progress of disease or mutation will be easy, risk of variant which could cause disease later in life, family inheritance, or risk to other blood relatives or children could be predicted. Nowadays, storing genetic samples by companies is also in practice. They would ask the consumer for voluntarily participating in the research program or even showcase your genetic makeup in the public domain.
The technology can indeed improve the current health issues but it has also raised many contemporary ethical concerns.
Few common questions include:
What is the real benefit of personal genome sequencing for the common individual?
Will it be covered by health insurance or any Government policy?
What to do after knowing the probability result of any hereditary carrier of diseases?
Who can access the genome data?
Is it necessary to share personal genetic data with a family member, research group, private companies, or government?
Could sharing genomic data publically will increase discrimination?
How to ensure that data will not end up in the wrong hands or misused?
Will medical or other claims could be denied after knowing inheritance history?
Is the practice of genetic screening before conceiving a wise step?
The luxury of genetic testing has raised many concerns. Further, the interpretation of correct data is not guaranteed and it often leads to disappointment.