Mobile Apps + Genetic Tests = a Healthier Future?

The past few years saw a major growth of direct-to-consumer genetic testing kits. Essentially, you take the appropriate samples from your body and send back the kit for results on what diseases and cancers you’re most likely at risk for.

By mid-2018, these kits analyzed the DNA of 17 million people. That’s a lot of recent high-quality data about populations. And it could prove to be very valuable to not only genetic researchers but tech innovators as well.

The Answers Are in Your Genes

Alongside this surge in do-it-yourself genetic testing kits, the fields of genetics and data science have been advancing rapidly. In fact, both bring new research that makes it easier to convert those 17 million kits’ data into actionable insights. Mobile app development has also progressed substantially in the last five years, creating a perfect foundation for genetics testing to go mobile.

This combination of technologies will help patients become more proactive rather than having to react to long-awaited lab results after a long-delayed medical appointment.

It’s very difficult to make sense of genetics lab results if you’re not experienced with how genes relate to cancer or disease. Long story short: many different gene combinations decide if you’re at risk or not. Common diseases like heart attacks, diabetes, or prostate cancer are indicated by hundreds of changes in DNA bases.

As a result, it’s easier for most genetic tests to look for singular gene assignments that cause specific, usually uncommon, diseases. But because we’ve improved in genetics and data science so much, it’s getting a lot easier to test for abnormalities across hundreds of genes.

These tests indicate a “polygenic risk” score that includes variants inherited from your mother and father. The risk score also tells patients about risks not inherited from their parents. The score can range from very low risk to very high risk.

What Can Mobile Apps Tell You?

Polygenic tests can help us identify patients who don’t need to take drugs if they don’t have a high risk for a disease. For example, statin drugs are given to patients with any risk for heart disease or stroke. But 95% of the drug’s patients haven’t had either heart disease or stroke. And taking the drug just for a nice lab test result can be dangerous; statin increases diabetes risk when it’s taken unnecessarily.

Studies show that patients in the top 20% heart attack risk from polygenic testing are two times more likely to benefit from statin drugs than patients in the bottom 20%. Often, the top 20% can also improve their lab results with exercise, avoiding smoking, and eating more fruits and vegetables.

Polygenic scores can help patients adjust their lifestyle habits to avoid the cost and follow-up associated with taking prescribed medications. Finnish researchers recently conducted a large-scale study that revealed patients with high heart disease risk scores started changing their lifestyle habits much more than those with lower risk scores.

The Scripps Translational Science Institute, based outside of San Diego, developed the MedTech mobile app MyGeneRank with polygenic results. This free app estimates heart attack and stroke polygenic risk scores. Users can also opt-in to a clinical trial that wants to measure how polygenic risk scores influence patients’ behavior and future health data.

Inevitable Roadblocks

Mobile genetic testing, as you probably already knew, isn’t without its own hurdles. As the field blossoms, we’ll see overall improvements, but it may still be a few years until we reach that level.

One roadblock is equal access; most genetic testing kits have been used by patients who have European ancestry lines. This skew can negatively affect other populations’ learnings. As the European descendants’ data becomes more predictable, other ancestry lines will become less accurate.

Privacy concerns are also a major challenge — we cannot allow insurance companies, healthcare providers, and other genetic testing companies to access a patient’s data without the patient’s explicit permission. Data protection will also guard patients against insurance rate hikes or provider appointment denials. Hopefully, data privacy can usher in equal access faster too.

Another hurdle is how patients perceive their risk scores and how they act based on that information. For example, some patients may feel a false sense of security with their scores and stop exercising or eating healthy. Other patients may feel doomed and resign themselves to a mentality of hopelessness, believing nothing can help.

Additionally, convincing patients that medical interventions aren’t necessary if they have a low risk of disease will be another challenge. Since medication use comes with its own side effects, it’s important to show patients that they’re in a better position to choose the low risk over the possible benefits of a medication.

A Unique mHealth Innovation

You’re stuck with the genes you’re born with. But as you age, these genes will change, switch on and off, and create differing risk levels of different diseases. Your genetic health at 20 compared to 40 or 80 will be similar but still different.

Lifestyle changes can make a big difference in whether those risk scores will manifest themselves into real disease symptoms, and we can use polygenic testing to prioritize which diseases we should be working towards avoiding. And if companies continue to track the data from their testing kit customers, we can combine our data and knowledge into a global database that everyone can benefit from.

We’ve already started moving towards more versatile healthcare with other mHealth innovations. But mobile genetic testing offers a unique way to reduce disease risks, physician burnout, and healthcare costs.