NEW YORK (GenomeWeb) – Following the UK National Screening Committee's recommendation last month to introduce noninvasive prenatal aneuploidy testing as a contingent test within the existing fetal anomaly screening program of the National Health Service, local UK providers who already offer the test expect demand for NIPT to grow even further, both from women eligible for testing under the NHS and from those at lower risk who are willing to pay out of pocket.
"We are ahead of our projected schedule in terms of samples, and we are already gearing up to scale up to double our throughput," said Basky Thilaganathan, director of fetal medicine at St. George's University Hospitals in London.
His lab, which is part of the St. George's University Hospitals NHS Foundation Trust, has been offering NIPT to pregnant women through the NHS since June 2015. St. George's assay, called SAFE test, is based on Premaitha Health's Iona test and uses the company's technology and workflow, which includes Thermo Fisher Scientific's Ion sequencing platform. St. George's and Premaitha said last March that they were planning to establish a NIPT facility, called the UK Centre of Excellence for Prenatal Screening, at St. George's.
The test is available free of charge to women for whom the combined screen determines a risk greater than 1 in 150 for fetal trisomy 21, 18, or 13 and who have been referred to St. George's. In addition, the lab offers the test as a laboratory service to other NHS hospitals and private clinics who provide it to women on a self-pay basis, for example, women who are at a lower risk for fetal trisomies.
St. George's has found that women with a risk below the 1:150 cut-off are often still concerned and willing to pay for the test out of pocket — NHS hospitals usually charge patients £350 ($500) — which has increased the lab's workload considerably. "There is a huge demand," Thilaganathan said.
The NSC recommendations also call for women with a risk higher than 1 in 150 to be offered a NIPT, and an invasive diagnostic test if the test comes back positive.
Thilaganathan said that following the publication of the recommendation, a subcommittee will now establish minimum standards for NIPT, which are expected to be available within six months, as well as a pathway for its wide introduction within the NHS.
However, "The reality of the situation is that most hospitals will be working ahead of the curve and be implementing and introducing NIPT," he said, similar to St. George's, before the minimum standards come out.
At the current risk cut-off, he said, introducing NIPT as a second screening test after the combined screen could save the NHS substantial costs because it would replace many invasive diagnostic tests, which are more expensive than NIPT, and also prevent a number of miscarriages associated with amniocentesis. "Most of the hospitals that we've been dealing with have been quite smart and quick about taking up NIPT because it represents a cost savings for them, and women also like it because they don't have to undergo a risky procedure," he said.
Thilaganathan said it is difficult to predict how many UK laboratories will start offering NIPT to NHS hospitals once the minimum standards are out, but most likely, it will be existing NHS genetics centers that will establish the test.
St. George's currently has a capacity of 3,600 NIPT per year but hopes to double that by the third quarter, he said.
Another NHS laboratory that already launched an NIPT service for aneuploidy screening last year is the North East Thames Regional Genetics Laboratory at Great Ormond Street Hospital, also in London. According to its website, the test, which uses the Illumina HiSeq sequencer, was developed by the laboratory and was used as part of the Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID) evaluation study, results of which were reported last May.
In addition, commercial providers have started to offer NIPT locally. TDL Genetics and Health Services Laboratories in London, for example, started to offer Roche's Ariosa Diagnostics Harmony test in late 2012, which was initially performed by Ariosa's US laboratory. But after seeing sufficient growth, the lab brought the technology in house and has been providing the Harmony test in its own laboratory since last September.
TDL charges clinics and hospitals rather than patients directly, so pricing for patients varies depending on where they receive their test, Lisa Levett, director of genetics and molecular pathology at TDL, told GenomeWeb.
TDL "will definitely be offering this service to the NHS," she said. In addition, the lab is already seeing increased demand from women at lower risk than the 1 in 150 cut off. "We foresee that the demand for this test from those who are either eligible [under the NSC recommendations] or self pay will increase," she said.
"From a laboratory point of view, the NIPT technology is expensive and the assay is extremely complex," she added. "We expect laboratory services will need to consolidate."