Research and Markets: Opportunities in Noninvasive Prenatal Diagnostics and Newborn Screening.
The push to improve detection of fetal abnormalities as early as possible with the use of non-invasive tests has prompted numerous manufacturers to engage in R&D directed at prenatal diagnostics and newborn screening. Next-generation sequencing techniques coupled with molecular assays are at the forefront of the genetic testing boom, with the singular aim of optimally isolating fetal DNA. It is at this juncture within the molecular diagnostic testing arena where issues of science, regulatory oversight, and medical expertise must be addressed and weighed against those related to ethics, cost-effectiveness, and profitability.
Questions Answered in This Report:
* Current invasive prenatal diagnostics such as amniocentesis and chorionic villus sampling (CVS) are still the preferred gold standard, but concerns about cost and safety are creating opportunities for noninvasive detection of chromosomal abnormalities. What noninvasive techniques are of most interest at the preconception stage versus during pregnancy? What is the potential for testing alongside in vitro fertilization (IVF)?
* Molecular diagnostics technologies including microarray and next-generation sequencing have created tremendous growth opportunities in the prenatal diagnostics market. While noninvasive testing will not replace invasive prenatal testing completely, what breakthroughs have been achieved in sensitivity of emerging prenatal tests? What companies and research laboratories are reporting progress in this field?
* Advances in next-generation sequencing and molecular assay technologies have led to opportunities in prenatal diagnostics, particularly in the area of standardization. What role has sequencing played in strengthening state-mandated newborn screening programs? How will they change in the future? What condition is a federal advisory committee considering adding to the universal panel?
* Ongoing research has shown that the entire fetal genome can be obtained from maternal plasma. What is the potential for prenatal diagnostics and newborn screening tests as a result of continued success in this arena?
Scope of the Report:
* Testing uses mentioned: Sex selection, cystic fibrosis (CF), Fragile X syndrome, preeclampsia, Down's syndrome, Noonan's syndrome, Batten disease, Duchenne muscular dystrophy, cleft lip, neural tube defects, gastroschisis, clubfoot, intra-amniotic infection, congenital hypothyroidism, biotinidase deficiency, sickle cell anemia, congenital adrenal hyperplasia, phenylketonuria, Tay-Sachs disease, Huntington's disease, polycystic kidney disease (adult), hemophilia A, CHILD syndrome.
* Genes mentioned: CFTR, FMR1, CYP11B1, Hemoglobin beta gene (HBB), HEXA, HTT, PKD1, Xp2l, FVIII, CPDX2.
* Issues explored: Preimplantation genetic diagnosis, universal carrier testing, newborn screening, genetic counseling, in vitro fertilization, next-generation sequencing.
* Expert Commentary: Decision Resources analyst Cindy Fung, Ph.D., discusses the cost and benefit considerations involved in prenatal diagnostics for CF.
* Companies: Discussion of select companies in the field of prenatal noninvasive testing that should be monitored over the next five years.
* Advisory Committee on Heritable Disorders in Newborns and Children
* Albert Einstein College of Medicine
* American Academy of Pediatrics
* American College of Medical Genetics
* American Congress of Obstetrics and Gynecology
* Artemis Health
* Beyond Batten Disease Foundation
* Child and Family Research Institute of the University of British Columbia
* Department of Health and Human Services
* Ferring Pharmaceuticals
* Genzyme Genetics (now owned by LabCorp)
* Gene Security Network
* Genetics and Public Policy Center at the Berman Bioethics Institute of Johns Hopkins University
* Human Genome Project
* Knowledge Networks
* National Center for Genome Resources
* National Newborn Screening and Genetics Resource Center
* Novartis Vaccines and Diagnostics
* President's Council on Bioethics
* Subcommittee on Oversight and Investigations of the U.S. House of Representatives
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