Who is having genetic testing?

medical and non-medical genetic testingIn 2017, Truven Health Analytics-NPR Health Poll asked 3000 Americans about their experiences and attitudes towards genetic testing. They asked the same questions to a different 3000 people in 2016. This lets us look at how genetic testing practices and attitudes are changing. The results are very interesting. You can read the full report here.


Ancestry information is now a common reason for genetic testing

About 400 people had genetic testing in each survey, but the reasons for testing were different. In 2017, a quarter of people had genetic testing to find out about their ancestry. This compares to only 15% in the 2016 survey. In 2016, a quarter of people had genetic testing because information from family members had become available. For example, a relative may have found out they had a BRCA mutation, or were carriers of a cystic fibrosis gene mutation. In 2017, acting on carrier or family history information accounted for only 7% of tests.


Half of all genetic tests were direct-to-consumer

In 2017, half of the genetic tests were ordered through a physician and half through direct-to-consumer (DTC) companies. This makes sense, because ancestry testing is not a medical test, and is provided by direct-to-consumer testing, not health systems. There was an age difference in how people accessed testing; 40% of millennials used direct-to-consumer tests, compared to only 10% of people over 70 years of age.


Advertising genetic testing works

What is the reason for this increase in ancestry-related genetic testing? Advertising has surely played a major role. According to Kantar Media, paid advertising for genetic testing increased 80% between 2015 and 2017, mostly for ancestry and paternity testing services.

Both AncestryDNA and 23andMe are increasing their advertising spends dramatically. 23andMe spent $109 million on advertising in 2017 compared with $13 million in 2016. AncestryDNA spent $133 million on advertising in 2017 compared with $39 million in 2016.

Direct-to-consumer companies largely use traditional sales techniques, such as special offers, to boost sales. The 23andMe test was one of the five top buys on Amazon over Black Friday weekend, in part because they slashed the price from $199 to $129. AncestryDNA sold 1.5 million tests over the same period. Companies also employ eye-catching marketing such as 23andMe’s current Father’s Day campaign: ‘There’s something about Dad – Get to the heart of what makes Dad unique. It’s in his DNA!’


Medical genetic testing is not increasing fast enough

Many have suggested the recent increase in genetic testing reflects ‘a paradigm shift among consumers who are seeking greater control over their own healthcare’.  But there is little evidence to support this. The NPR survey suggests the increase is mainly for non-medical reasons such as lifestyle or ancestry testing rather than for healthcare reasons.

In the 2016 NPR poll 80% of tests were done for medical reasons, such as to aid diagnosis, prediction, treatment or prenatal care. The remaining 20% were for ancestry and lifestyle. In 2017, the overall number of tests had only increased marginally (29% vs 23% of people) but the proportions were 60% medical and 40% non-medical tests. So, overall, there seems to have been a decrease in medical genetic testing.

There are some surprising trends. Prenatal testing decreased from 15% of tests in 2016 to 2% of tests in 2017. Carrier/family history based testing decreased from 25% to 7%. Both of these were statistically significant changes. These results are very concerning. They suggest the potential of genetic testing to aid in medical diagnosis, treatment and prevention is not increasing as fast as we hoped.


Most people are willing to share their genetic data

Over 80% of people were willing to share their genetic test results with their doctor and with their relatives. And 70% were willing for their results to be used for research purposes. These data are consistent with other studies. Most people are happy for their genetic information to be shared for these purposes, as long as data sharing regulations are followed and their rights and privacy are respected.

To deliver genetic medicine safely it is essential that medical genetic test data are shared, as we have discussed in several posts. Yet, despite the wishes and needs of the majority of patients and doctors, we remain slow and coy in promoting and delivering genetic data sharing. We need to be more proactive.


We should separate medical and non-medical genetic testing

The recent increase in genetic testing has mostly been for non-medical ancestry information. We urgently need to increase medical genetic testing awareness.

A clear message from these surveys is the urgent need to separate data about medical and non-medical genetic testing. Putting information about these two uses of genetic testing together is rarely appropriate. They are distinct uses, serving different markets. They are also delivered by different providers.

Moreover, the expansion in non-medical genetic testing maybe obscuring a relative lack of expansion in medical genetic testing. This needs urgent exploration.


We must increase medical genetic testing awareness

The hard-sell tactics of non-medical genetic test providers are clearly not appropriate for medical tests. But we must focus some attention on ensuring people are aware of, and have access to, medical genetic tests. It is possible the massive advertising of non-medical genetic tests is having a negative impact on medical genetic testing uptake. Perhaps because people believe, incorrectly, the tests cover things like prenatal and carrier testing. It is also worth considering if there are opportunities to leverage the reach and deep pockets of direct-to-consumer companies to educate people about medical genetic testing.