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) |
Market
|
Conditions tested
|
Test price
|
Tests
sold
|
Market
entry
|
Ariosa
(Harmony)
|
USA
|
Trisomies
13, 18, 21, sex chromosome aneuploidies
|
$795
|
150,000
until September 2013
|
May 2012
|
Beijing
Berry Genomics (BambniTest)
|
China
|
Trisomies
13, 18, 21
|
Around
$500
|
||
BGI
(NIFTY)
|
China, Worldwide
|
Trisomies
13, 18, 21
|
200,000
until October 2013
|
||
CellScape
(Clarity)
|
USA
|
In
development
|
None
yet
|
||
KellbenX
|
USA
|
In
development
|
None
yet
|
||
LifeCodexx/ GATC (PraenaTest)
|
Europe
|
Trisomies
13, 16, 21
|
€1,150
($1,580)
|
Year to August 2013: 6,000
|
August 2012
|
Natera
(Panorama)
|
USA
|
Trisomies
13, 18, 21, sex chromosome aneuploidies
|
$2,750
|
December 2012
|
|
Sequenom
(MaterniT21 Plus)
|
USA
|
Trisomies
16, 21, 22, deletions causing various syndromes
|
$1,700
for uninsured patients
|
145,000
until September 2013
|
October 2011
|
Verinata/ Illumina (Verifi)
|
USA
|
Trisomies
13, 18, 21, sex chromosome aneuploidies
|
$1,500
|
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.
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.