7 Jun, 2019

How Direct to Consumer Genetics is Changing

In 2010, Ozzy Osbourne, the hard-partying rock star, had his whole genome sequenced and analysed for around $35,000. This was not for a medical diagnosis, but performed by a startup company called Knome. Today you can have your whole genome sequenced for between $800 and $1200.

This new breed of genetic testing, called ‘direct-to-consumer’ testing because there was no doctor needed, has been around since the mid-2000s and offered by several different companies.

From 2006 through 2012, tests from the first direct-to-consumer genetic testing companies such as 23andme, AncestryDNA and My Heritage cost several hundred dollars. Continued improvements in the technology, combined with fierce competition means these tests are routinely $99 or less today. These tests use a type of technology called genotyping, which looks around 1 million locations in the DNA that are known to vary commonly amongst humans, out of the total 3 billion.

Besides these relatively inexpensive genotype tests, there are also companies offering newer sequencing technology including Veritas Genomics or Dante Labs, which offer whole genome sequencing (all 3 billion bases) for around $1000, down from tens of thousands of dollars in the mid 2000s.

Genetic ‘app stores’

The price has not only changed but so has the business model. While 23andme and AncestryDNA produce all of their own analysis, other companies such as Helix have drawn inspiration from Apple and launched an ‘app store’ for genetics.

Startup companies such as Sequencing.com in the USA and GenePlaza or Genejar in Europe have also adopted the ‘app store’ model.

Genetics app stores, as well as growing interest in genetics, has resulted in an explosion of companies offering interpretation on specific traits or diseases.

Some of these companies have caused raised eyebrows from scientists, journalists, and the general public. For example, Pheramour claims they will measure your ‘genetic compatibility’ for online dating, but many experts have their doubts on the scientific rigour, and ethics, of this approach.

Companies such as DNAFit and Helix offer fitness and diet recommendations, but scientists such as Eric Topol, a renowned cardiologist, said in an interview with Verge that there was little science to support them.

Some companies have launched tests that focus on a single disorder, such as Dash Genomics’ Alzheimer’s prediction algorithm, which can be applied to data from 23andMe or other sources. The algorithms for predicting risk continue to improve, but many scientists still question whether information from these genetic tests is ‘actionable’ - in other words, what can you do to reduce your risk of Alzheimer’s disease if you are presented with a test saying you are at risk?

Companies such as Chronomics and Epigencare have also started moving into measuring epigenetics, the chemical modifications to DNA that correlate with ageing and other behaviours such as smoking. Likewise, companies such as uBiome, Atlas Biomed, and Viome offer at-home microbiome testing kits - these kits focus not on your DNA, but the DNA of the bacteria living in your stomach.

The number of options is dizzying - where does this leave consumers?

While many scientists and healthcare professionals, and media outlets have warned against the validity of predictions and in some cases written scathing reviews, demand for genetic testing continues to soar.

On sites like dnatestingchoice.com, there are thousands of reviews across hundreds of different tests. Genetic app stores like Helix do not always publish the number of tests they sell, or host reviews from users, meaning it is difficult to tell which tests are growing in popularity.

Beyond the explosion in choice and diversity of predictions available, there have been growing concerns about data privacy. Over the past few years, many 23andme customers have been surprised to learn about plans to sell data to pharmaceutical companies. With Helix, the genetic data ‘app store’, users are charged $499 in order to download their data.

In the United States, many big direct-to-consumer companies are making big bets into healthcare - 23andme offers testing for breast cancer risk direct to consumer. Helix, and the Silicon Valley startup Color offers tests for medically actionable genes, but only with a referral from a doctor.

In Europe, where many countries have socialised healthcare, the role that direct-to-consumer testing can play is less clear. In the UK, an announcement that the NHS would look into establishing a ‘volunteer cohort’ that would allow individuals to purchase a genetic test, which would be interpreted by the NHS, led to some outcry against establishing a ‘two-tier’ system of healthcare.

However, as more and more consumers turn to genetic testing out of curiosity, or seeking more information about their health, it seems inevitable that this growing business will collide with traditional healthcare systems. In the UK, patients who receive genetic test results from a private company like 23andMe may bring the report to their General Practitioner, and expect help understanding the results. Health Education England, part of the National Health Service, has a whole programme devoted to Genomics Education and helping citizens navigate some of these questions.

In the next 5 years, will we see the rise of routine genetic testing from healthcare providers? Or a global ‘app store’ driven by commercial direct-to-consumer testing? Or something different entirely?

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