TY - JOUR
T1 - Industry perspectives on prenatal genetic testing
AU - Swanson, Amy Leigh
AU - Goldberg, James D.
N1 - Funding Information:
The role of commercial laboratories in the development and deployment of novel prenatal genetic tests is a relatively new one. Historically, prenatal genetic tests were typically developed and implemented by academic physicians and laboratories. In addition, much of the initial academic research on prenatal genetic diagnosis and screening was funded by governmental grants. For example, in 1970, Drs. Henry Nadler and Albert Gerbie from Northwestern University Medical School and Chicago Children's Memorial Hospital respectively, published on ‘The Role of Amniocentesis in the Intrauterine Diagnosis of Genetic Defects’. 1 Their work was supported by several grants, including one from the National Institutes of Health (NIH). Following this seminal publication, Drs. Milunsky and Littlefield from Massachusetts General Hospital and Harvard Medical School reported on the prenatal diagnosis of inborn errors of metabolism in 1972 2 based on their work, which was supported by US Public Health Service grants. In addition, maternal serum alpha-fetoprotein screening for open neural tube defects (ONTDs) was implemented in the 1980s 3 following research and development led by Sir Nicholas Wald, at the Wolfson Institute of Preventive Medicine at Barts and The London School of Medicine and Dentistry. This work eventually led to serum-based screening for Down syndrome in addition to ONTDs.
Funding Information:
Since the initial forays into prenatal genetic testing, both the understanding of the etiologies of genetic diseases and laboratory diagnostic techniques have continued to evolve. The past 50 years have seen significant expansion of the scope of prenatal genetic testing, including the introduction of ethnicity-based carrier screening (e.g. Tay-Sachs disease, cystic fibrosis, hemoglobinopathies) and the measurement of additional serum analytes and use of ultrasonography to predict risk for common chromosomal aneuploidies. In 2012, findings from a pivotal trial of prenatal diagnosis via chromosomal microarray analysis (CMA) were published by Wapner et al. 4 Their study was funded by a research grant from the NIH and has led to changes in professional society recommendations as to the laboratory methodologies that should be used to analyze samples obtained by chorionic villus sampling and amniocentesis.
Funding Information:
One year prior to the publication by Wapner et al., findings from an international clinical validation study using circulating cell-free DNA from maternal plasma to detect fetal Down syndrome were published. 5 This study was fully funded by Sequenom, Inc., a publicly traded company. This study, and others like it, have impacted the field of prenatal genetic testing in numerous ways. Not only has the technique of cfDNA screening for fetal aneuploidy led to a fundamental shift in how screening is performed, but it has also triggered discussions and debates about the development and implementation of a prenatal genetic test by commercial entities.
Publisher Copyright:
© 2018
PY - 2018/8
Y1 - 2018/8
N2 - Until recent years, prenatal genetic tests have been almost exclusively developed and implemented by academic physicians and laboratories. In the last several years, industry has led the development of novel prenatal genetic tests, funded clinical trials and implemented these tests into clinical practice. That these efforts have been driven by industry has raised questions about diagnostics development regulations, consistency in reporting of results, and management of potential conflicts of interest. In this article, these topics are addressed from an industry perspective. While commercial laboratories may have the resources to develop and offer novel genetic tests, collaboration with healthcare providers is crucial for appropriate, effective, and efficient utilization of such tests.
AB - Until recent years, prenatal genetic tests have been almost exclusively developed and implemented by academic physicians and laboratories. In the last several years, industry has led the development of novel prenatal genetic tests, funded clinical trials and implemented these tests into clinical practice. That these efforts have been driven by industry has raised questions about diagnostics development regulations, consistency in reporting of results, and management of potential conflicts of interest. In this article, these topics are addressed from an industry perspective. While commercial laboratories may have the resources to develop and offer novel genetic tests, collaboration with healthcare providers is crucial for appropriate, effective, and efficient utilization of such tests.
KW - Commercial laboratories
KW - Diagnostics
KW - Diagnostics development
KW - Industry
KW - Prenatal genetic tests
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U2 - 10.1053/j.semperi.2018.07.021
DO - 10.1053/j.semperi.2018.07.021
M3 - Review article
C2 - 30241950
AN - SCOPUS:85053732822
SN - 0146-0005
VL - 42
SP - 314
EP - 317
JO - Seminars in Perinatology
JF - Seminars in Perinatology
IS - 5
ER -