Medicine’s New Horizons: Personal Genomics and DNA Testing

Medicine’s New Horizons: Personal Genomics and DNA Testing

Fast expanding markets (FEM) are rapidly growing economic opportunities that fly under the radar of macroeconomic analysis. We regard them as an exciting phenomenon because they are new markets that offer double-digit growth and a size potential whose limits are yet to be defined. Entrepreneurs and enterprises astute enough to recognize an FEM in action can pivot or diversify their suite of products and services. Some FEM are observable from a national or regional basis, while other FEM exist on a global product or industry level. One of the latest developments in the health industry is the rise of personal genomics and personalized medicine, an FEM where advanced technology is transforming the way diseases are diagnosed and treated.

Personal genomics is delivered in two ways:

through healthcare and direct-to-consumer. Most commonly, personal genomics involve the genetic screening of individuals for high-risk genes. To date, molecular diagnostics are available for an estimated 2,500 conditions. Other personal genomics services include carrier screening and genetic screening of embryos. Carrier screening assists in family planning as two adults are screened for genetic diseases to determine the probability of a child being born with that disease.

The genomics market is growing quickly. In 2013, the global genomics market was valued at $11.1B. With an estimated compound annual growth rate of 10.3%, the global market for genomics is expected to reach $22.1B by 2020. In healthcare, data from 2006 to 2009 indicated that upwards of $4B were spent on genetic testing and molecular diagnostics in the US, and grew to $5B in 2010. According to UnitedHealth, projections for healthcare-based personal genomics are estimated to be as high as $25B by 2020.

Primary drivers of growth include adoption of genetic testing, an increasing number of applications, falling costs, and demand. In 2004, it cost $300M to sequence a human genome. Since then, it has dropped below $3,000, and some estimates forecast a cost of less than $1,000 per genome sequence by the end of 2014. Although still cost-prohibitive for most consumers, exome DNA sequencing is also available, whereby only the active regions of an individual’s DNA where genes are contained is sequenced.

While commercial demand for genomics consumables is by far greater than direct-to-consumer demand, the public response to learning about personal genomics has been a telling sign of things to come.  in participatory healthcare, where health practitioners and individuals jointly decide on genetic screening. As an example, one of the largest drivers of consumer demand for genetic screening has been coined “the Jolie effect.”

After the actress Angelina Jolie revealed in 2013 that she was screened and had aBCRA1 gene mutation that put her at high risk for breast cancer, the number of women requesting referrals from their doctors for DNA testing doubled over the previous year in the following six months. Experts predict a greater participatory model of healthcare in the future, where practitioners and individuals jointly make healthcare decisions.

Personalized medicine, broadly defined as diagnostics, therapeutics, and consumer-level care such as nutrition and wellness programs, is estimated to grow at a compound annual rate of 11%, with a market value between $344 and $452B in 2015. Hospitals and medical organizations are a driving growth behind patient-specific care as it helps to reduce costs and to provide more effective treatment to individuals. One branch of medicine where personalized medicine is increasingly used is oncology. In cancer diagnostics, genotyping allows doctors to identify a particular cancer mutation in order to select the best drug therapy for an individual. In other cases, genomic testing allows doctors to predict how a patient may respond to a particular drug and avoid adverse reactions as a result, while also eliminating potentially less effective treatments and improving health outcomes. As healthcare costs continue to skyrocket, genetic testing of individuals for predisposition and susceptibility to a disease as well as the ability to identify a disease or illness at earlier stages have the potential to ultimately transform healthcare systems. Today, 75% of healthcare costs are spent on managing chronic diseases such as diabetes and heart disease. With the aid of personal genomics, the former chairman of GlaxoSmithKline has predicted that by 2020, most treatments in industrialized countries will be “pre-symptomatic,” thus helping to relieve the burden of chronic diseases.

Although there is industry-wide support for personalized medicine, risks to market growth in the direct-to-consumer market have come in the form of FDA regulation concerning misleading health analysis and issues with genetic privacy. Personal genomics companies, including the high-profile US-based 23andMe, have been quick to pivot their technology in light of FDA concerns about misleading health information. Rather than offering health analysis, 23andMe and competitors are changed its service toward the ancestry market, where genetic testing for lineage has become a popular method to find ancestral roots. Using personal genomics technology to serve a different market is an example of how technology alone does not become an FEM. Rather, it is how governments, entrepreneurs, and managers scale and use the technology that determines the development of a market.

Some of the best tales of FEM are about technologies that irreversibly alter the way we live for the better. Personal genomics and personalized medicine has the power to help health practitioners with disease prevention and to treat diseases more effectively. In addition, genomics is giving rise to new treatment models, such as epigenetics and nutrigenomics. Such advancements are destined to impact the world in health as well as create new markets.

 Thanks to Stella Tran, Faculty Aide at Harvard University for the research conducted on this market.