Seven years ago, in October 2011, Sequenom launched their Noninvasive Prenatal Test for Down Syndrome. NIPT (aka NIPS) promised a safe and highly accurate way to screen for Down Syndrome. The first NIPT, MarterniT21, was indicated for women at high risk of carrying a fetus with Down Syndrome.
To say that NIPT enjoyed rapid global adoption is an understatement: fast forward 7 years, and over 10 million tests have been performed, most of them in China.
What do we make of it?
Some have dubbed NIPT “the fastest growing molecular diagnostic in history”. We could not corroborate this claim with hard facts, but NIPT is probably the most widely adopted clinical genomics application. What led to this success?
Firstly, NIPT has supported by a vast amount of clinical data. In the first 3 – 4 years companies and researchers enrolled tens of thousands of patients in clinical trials and published the results in peer reviewed publications. The data was clear: NIPT worked better than the standard of care. Physicians and professional societies relied on these data to start prescribing NIPT.
It was replacing an existing screening test with an analytically better test. Instead of asking physicians to change their treatment behaviors and adopt a new clinical protocol, NIPT was providing a superior test to existing clinical procedures.
If there was physician pull, there was also significant patient pull. Pregnant women were keen to opt for a test that posed no risk to the fetus or to herself, with a better accuracy. Some reports even support the idea that patients that had opted out of screening before NIPT, now opted to be tested.
Fueling demand and supply, there were several companies in the US, China and Europe that pushed for adoption. Companies like Sequenom, Verinata, Ariosa and Natera drove adoption in the US and abroad, and BGI and Berry Genomics, among others, did the same in Asia. LifeCodexx spearheaded the launch of NIPT in Europe.
Lastly, once clinical utility and initial adoption was established, payers covered NIPT. First for high risk populations, but by 2016 some payers started covering NIPT for every patient.
Why do we find it interesting?
For the industry
NIPT was launched by a few centralized reference labs as a better screening for Down Syndrome for high risk patients (e.g.: patients over 35 years of age). Today, NIPT tests are being run in dozens of labs for both high and low risk patients using expanded content to include T21 (Down Syndrome), T13, T18, Sex Chromosome Aneuploidies, as well as a slew of microdeletions.
What lessons can be learned from this shift in testing locale, indicated use and test content?
One lesson is that to be successful, NIPT companies needed to enable their customers to run the test in their lab. The fact that the test was launched by in-country laboratories in US, China and Europe contributed to the early adoption in these geographies. But by 2015, just 4 years after the launch of NIPT, it had become blatantly obvious that many labs wanted to run NIPT locally, and not send samples to a handful of reference labs around the world. In short, as the test ceased to be ‘esoteric’ it left the reference labs (where esoteric tests belong) and was run in local labs (where routine tests pertain).
A second lesson is that in diagnostics there is a push to offer more content per test as a way to differentiate from competition. When the cost of adding new content is low, and there are many competitors with similar products, test content will tend to grow. The attitude can be summarized by “(if it doesn’t cost much more), more is better”. However, much of the content that was added to NIPT was not valued by customers, and most of it is not being paid by payers nor endorsed by professional societies.
A third lesson is that clinical utility is paramount. As Lincoln purportedly said: “You can fool all the people some of the time, and some of the people all the time, but you cannot fool all the people all the time”. So to be truly successful in the long run, companies with innovative tests must invest in demonstrating clinical utility.
The bigger picture
Developing a great test based on strong science is just the first step. The essential element for success is a thorough understanding of what the clinical customer values: strong clinical utility, local testing and actionable content. Indeed, adoption for content with no demonstrated clinical utility and with questionable actionability remains patchy, and healthcare systems which run the test locally have adopted the test to higher degrees than systems that send the test to reference labs. We believe this is applicable to NIPT but also to many other genomic tests.