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Charting the growth in the reproductive health genetic testing market

The market for reproductive genetic testing historically been dominated by carrier screening but progress is being made in different methods, including non-invasive prenatal testing.

The reproductive genetic testing market is poised for substantial investment and growth as demand continues, reimbursement improves, and the technology expands to additional, novel applications.

The market has historically been dominated by carrier screening – prenatal testing based on risk factors related to Cystic Fibrosis (CF) –  and genetic diseases associated with specific ethnic groups, such as Tay Sach’s & Gaucher in the Ashkenazi Jewish community and thalassemia in the Asian populations.

But now there has been progress in different methods of reproductive genetic testing. For instance, a recent explosion of the utilization of additional non-invasive prenatal testing (NIPT), and the continuous expansion of upstream preconception testing (PGD/PGS) and downstream neonatal screening and genetic disorder testing.

Carrier screening is offered to pregnant women based on relevant risk factors in order to screen for autosomal recessive disorders. We anticipate growth moving forward in another segment of this market: Expanded Carrier Screening (ECS), which comprises ever-increasing panels of novel genes/disorders.

These growing panels, such as Sequenom’s (now part of LabCorp) Inheritest and Counsyl’s Foresight, have been enabled by next-generation sequencing (NGS) and informatics technologies that allow for screening for hundreds of disorders (versus dozens with traditional technologies). Though often an out-of-pocket expense for patients, demand for information, a growing mixed ethnicity population in the U.S., and declining NGS costs will likely fuel an expansion of ECS offerings.

NIPT involves the testing of cell-free DNA from the plasma of pregnant women to predict fetal aneuploidy, e.g., Down’s Syndrome (Trisomy 21), Patau Syndrome (Trisomy 13) and Edwards Syndrome (Trisomy 18), which contribute to over 70 percent of reported chromosomal defects. 

The American College of Ob/Gyns (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) currently recommend NIPT as a screening option for women at high-risk of fetal aneuploidy. This has led to a clear disruptive advancement in the market and subsequent reimbursement in this population given superior clinical performance (and improved convenience) versus amniocentesis and chorionic villus sampling. However, we anticipate continued penetration of and access for the more moderate risk population, due to:

  • patient demand and desire for information in a very proactive population
  • willingness to pay out-of-pocket
  • physician desire to provide a comprehensive prenatal testing offering to their patients
  • potentially lower costs given intense competition and evolving technology

Given these factors and the potential for the market to grow four times to over $1.5 billion in the coming years, a flurry of mergers and acquisitions has enabled large consolidators such as Roche, LabCorp, Illumina and Agilent to enter the NIPT space.   

Expanding the portfolio upstream to preconception testing and/or downstream to neonatal testing offerings is another strategic option for companies in this market. Upstream, pre-implantation genetic diagnosis (PGD) and screening (PGS) technologies, though currently a small market ($50 million -100 million), can represent a modest growth pathway moving forward. 

These tests target the infertility market and serve to allow couples to determine the risk of transmitting a specific genetic disease to their child, as well as allowing physicians to select embryos without chromosomal abnormalities or reduce the likelihood of multiples. Though the market opportunity has been plagued by high costs that are added to an already extremely expensive IVF process, PGD does hold promise given the accepted clinical utility and hopefully improved cost-effectiveness with newer modalities like SNP arrays. 

Downstream, expanding panels, declining NGS costs and improving reimbursement are also opening up expanded possibilities for neonatal and pediatric genetic testing. This expanded testing is indicated in children with clinical features of a genetic disorder, as well as in those considered at risk for an inherited condition.

Difficult reimbursement and constantly evolving technology still present substantial challenges to competing in the reproductive genetic testing market. However, the overall market is largely untapped and represents a viable growth opportunity in the reproductive health field given somewhat limited innovation with therapeutics in this space.

To this end, companies such as Cooper (which bought Reprogenetics, Genesis Genetics) and Invitae (which acquired Good Start Genetics, CombiMatrix) have made multiple acquisitions in the past one to two years to expand their portfolios with offerings targeting every “stage of life.”  Furthermore, companies such as Sema4, Veritas Genetics, and Claritas Genomics continue to emerge and integrate testing technology, informatics, and services such as genetic counseling in order to provide broader solutions to this patient population.

Photo: Getty Images, traffic_analyzer


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