18 May 16 Will genetic testing disrupt the traditional clinical diagnostics industry?

The advent and commercialisation of genetic testing threatens to disrupt the diagnostics space. How will this affect the traditional diagnostic services industry?

In recent years, rapid advances in genomics have made gene sequencing available for commercial applications in healthcare and diagnostics. Genetic testing is being used for diagnosing diseases; identifying mutations in genes that have either caused a disease or are likely to cause one in the future; identifying genes that could be passed on to children and screening new born babies for treatable conditions.

Angelina Jolie’s public announcement of her decision to undergo a double mastectomy, based on testing positive for BRCA1 gene mutation that put her in a high risk category for breast cancer, made genetic testing a hot topic overnight and significantly increased public awareness of the new diagnostic options available.

Predictive diagnostics involves identifying mutations in genes that could cause diseases before they actually manifest in a person. Such tests have been found to be highly beneficial in reducing health risks, particularly where preventive measures are available. Individuals in the high risk category can increase the frequency of disease screening or make lifestyle changes that reduce their risk of contracting the disease. The most common genetic tests used are those for breast cancer, Alzheimer’s and Huntington’s disease; but there are many more available in the market today.

Currently, there are at least 50 – 60 companies globally that offer genetic tests commercially (including over half a dozen in India) and many more start-ups are getting into the arena. There are hundreds of tests available across most therapeutic areas including oncology, cardiology, endocrinology, neurology, ophthalmology, ENT and so on. By one estimate, the global genetic testing market is expected to reach USD 2.2 billion by 2017.

Potentially, the advances in genomics and genetic testing can have huge benefits for public health. They will facilitate personalised medicine – targeting of preventive efforts to groups of people who need it.  Essentially, the focus of healthcare will shift from treatment and cure to prediction and prevention.

Genetic testing, however, has some limitations. Though technology gives us full information on a person’s gene sequence, the understanding of how to interpret the genetic data and use it for improving a person’s health is still limited. Presently, scientists are able to interpret results from genetic testing in cases where there is disruption of a single gene or area. However, many diseases involve mutations in multiple chromosomal areas. Tests for mutations associated with multiple genes or factors have proved to be very hard to interpret. They are only able to give indications on risk factors, not whether the person will or will not get the disease.  Genetic testing is also not useful for many common ailments where the factors contributing to the disease could include non-genetic ones – such as lifestyle, environment, etc.

Further, the possibility of false positives (testing positive for a disease when it is actually not there) in genetic testing is fairly high. So many times, highly specific diagnostic tests need to be done in order to confirm the finding. The financial burden of genetic testing is not insignificant. Costs range between USD 100 and USD 2000, and higher for the more complex ones.

The emotional/ psychological benefits of knowing one’s genetic risk factors have been much debated. Unless there are effective interventions available, it is argued, the knowledge could add to the stress instead of reducing it.

There will no doubt be many more breakthroughs in our ability to interpret the information that genome sequencing provides. And that will expand the benefits and applications for genetic testing going forward. In the meantime, at least in the short and medium term, genetic testing is likely to be used to complement traditional diagnostics; it cannot replace it.