December 19, 2013

How is non-invasive prenatal testing getting on?

Almost two years ago, I wrote a series of posts on non-invasive prenatal testing (NIPT) of foetuses and the associated market. What has changed since?

In terms of technology, there hasn't been any big breakthrough. The principle behind NIPT has stayed the same: Some of the DNA in a pregnant woman's blood is of foetal origin. By sequencing that DNA, it is possible to reconstruct most of the genotype of the foetus, and to detect many severe genetic disorders from the 8th week of pregnancy onwards - earlier than with equivalent tests.

What has changed is the number of companies actually offering NIPT. At least seven companies worldwide currently sell NIPT, whilst several other are aiming for a 2014 market entry. The table below provides and overview.

Company (Test)
Conditions tested
Test price
Tests sold
Market entry
Ariosa (Harmony)
Trisomies 13, 18, 21, sex chromosome aneuploidies
150,000 until September 2013
May 2012
Beijing Berry Genomics (BambniTest)
Trisomies 13, 18, 21
Around $500

China, Worldwide
Trisomies 13, 18, 21

200,000 until October 2013

CellScape (Clarity)
In development

None yet

In development

None yet

LifeCodexx/ GATC (PraenaTest)
Trisomies 13, 16, 21
€1,150 ($1,580)
Year to August 2013: 6,000
August 2012
Natera (Panorama)
Trisomies 13, 18, 21, sex chromosome aneuploidies

December 2012
Sequenom (MaterniT21 Plus)
Trisomies 16, 21, 22, deletions causing various syndromes
$1,700 for uninsured patients
145,000 until September 2013
October 2011
Verinata/ Illumina (Verifi)
Trisomies 13, 18, 21, sex chromosome aneuploidies

March 2012

This list is incomplete in the sense that increasingly NIPT is also considered as an option by public health services. In the Netherlands, a NIPT trial will start in April 2014. In England, the National Health Service (NHS) is currently carrying out a study of NIPT called RAPID.

One aim of the NHS study is to compare the cost of NIPT to that of chorionic villus sampling (CVS). CVS is an invasive procedure that has traditionally been used for obtaining genetic material from the foetus. It involves taking a sample of the placenta and can lead to miscarriage. The advantage of CVS is that it gives relatively unambiguous results, whilst positive NIPT results still need to be confirmed by CVS or a similar procedure. Even so, the estimated total cost of using NIPT compared to CVS alone was 4% lower for one condition and 7% lower for the other condition. An important caveat of this estimate is that it only used NIPT for foetal sex determination in cases where this was disease relevant and not into detecting chromosomal abnormalities. 

The Dutch and English examples of public health service-provided NIPT points to a mistake that is easy to make when estimating the future market size for NIPT (and genetic diagnosis in general). A lot of health service providers may prefer to develop their own tests rather than rely on third party tests. This decreases the size of the market accessible to companies like Sequenom and Ariosa, especially in Europe.

Do you have any comments, or are there any NIPT companies or projects I haven't included? Please feel free to tell me in the comments section below.