According to the WHO, nearly 140 million babies are born every year, out of which 5 million die in the first month of life, mostly in developing countries. This emphasizes the need for newborn screening for preventing disability and death by early intervention, follow-up and counselling.
The global prenatal, maternal and newborn screening diagnostic test market will be worth over $10.5 billion by 2021, up from $8 billion today, according to a new report from Kelly Scientific.
In the final installment of our Q&A series, Deirdre Kelly discusses the various technologies being employed for detecting genetic diseases in embryos, fetuses and newborns.
Q. How many genetic conditions can be detected during newborn genetic screening?
Currently, there are well over 3,500 genetic mutations that can be screened for, whether its chromosomal, autosomal recessive, autosomal dominant or sex chromosome dependent. Some of the more common disorders screened for include cystic fibrosis, hemophilia, Faconi anemia, Turner’s syndrome, Fragile-X syndrome and phenylketonuria.
Q. What are the currently used advanced technologies in prenatal, newborn and PGD testing?
Routine prenatal screening is noninvasive and aims to identify small groups of women at a higher risk of carrying a baby with a disorder. These are only screening tests and therefore provide only the risk that a particular indication exists. They have a 60% to 70% detection rate and provide 5% to 10% false positive results. Therefore pregnant mothers with increased risk, based on the screening tests are offered an invasive diagnostic test to obtain a definitive answer. At present the prenatal screening market is dominated by immunoassay and ELISA kits. Just introduced in 2011, noninvasive prenatal test (NIPT) using cell-free fetal DNA (cffDNA) is becoming the new standard for prenatal genetic screening. Technical advancement has made it possible to test a negligible amount of cffDNA present in maternal blood plasma to determine fetal sex, RhD genotyping and chromosomal aneuploidy.
Existing amniocentesis and CVS diagnostic tests pose miscarriage risk of only 0.11% to 0.22%, if performed by an experienced professional. But, these two diagnostic tests can not be performed in the early stage of pregnancy. Digital PCR and massively parallel sequencing (MPS) technologies are used to perform these NIPTs.
For the preimplantation genetic diagnosis (PGD) market, PCR, FISH, CGH, and SNP analysis are some of the most common techniques used, with PCR is the most widely used technology. Current advanced technologies in this field include:
- Fluorescent in situ Hybridization (FISH)
- Array Comparative Genome Hybridization (aCGH)
- Single Nucleotide Polymorphism (SNP) Microarray
- Oligonucleotide Genome Sequencing (OGS)
- Express Genome Screening (EGS)
Mass spectrometry is used mainly for newborn screening. Using this technique, medical technologists are capable of screening over 30 metabolic disorders from a single sample of blood.
Q. What are the important factors that drive the growth of prenatal & newborn genetic testing industry?
Currently there is a significant unmet need for widespread carrier screening in the population. A number of serious conditions can be detected prior to conception, and therefore empowers potential parents with genetic information going forward. One of the main drivers of the carrier testing, and the prenatal test market, is a knowledgeable consumer that strives to understand their own genetics and the ability to make reproductive decisions on the data available. Vertical growth witnessed in the direct to consumer testing market is a testament to this information age and personal knowledge empowerment. A further driver is the consumers need to know if a child will potentially carry a genetic disorder, and therefore parents can put in place the medical requirements before the baby is born.
We’d like to take this opportunity to thank Deirdre & Kelly Scientific for providing us with such revealing insights.
Don’t forget to check out the first three parts of the series:
- 'Immunotherapy Will Become The Oncology Treatment Of Choice'
- How Personalized Medicine Will Transform Health Economics
- Stem Cells & The Future of Regenerative Medicine
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