Reproductive Health

Educating Patients and Providers on Prenatal Genetic Testing

Illumina supports non-profit organization to help provide educational resources and establish patient registry

Educating Patients and Providers on Prenatal Genetic Testing
5 October 2015

Illumina is joining with other laboratories to support the Perinatal Quality Foundation (PQF) efforts to develop an educational program around prenatal testing for healthcare professionals and their patients. The primary goal of the PQF Genetic Education Module is to provide educational tools and resources for health professionals and women and their families to help them make better-informed choices around genetic testing options. PQF is an independent nonprofit foundation that brings together experts and leaders devoted to maternal and fetal health, establishing unbiased advisory boards to create and implement programs that facilitate quality perinatal patient care.

In recent years, developments in prenatal genetic testing have included the availability of cell free DNA (cfDNA) analysis for noninvasive prenatal testing (NIPT), expanded carrier screening, as well as the introduction of chromosomal microarray analysis (CMA). The PQF educational tools will be designed to provide a level of understanding and knowledge adequate for health providers to provide basic and accurate explanations of these available genetic tests to most patients, and identify those patients that will benefit from referral to a genetic counselor or geneticist due to complex needs or clinical circumstances. As a supporter, Illumina may provide feedback to content created by PQF and contribute to the ongoing conversation on prenatal genetic testing.

“We’re excited to join forces with PQF to help advance the understanding and appropriate use of new technologies such as next-gen sequencing in prenatal genetic testing through educational tools and resources that help bridge the knowledge gap in this rapidly evolving field,” said Gautam Kollu, Senior Director of Market Development, Reproductive and Genetic Health at Illumina. “There’s a need for standardized education for healthcare providers as well as patients and we want to help support the industry-wide effort to develop and distribute these crucial tools.”

The core of the program will consist of two websites, one for health professionals, such as physicians, nurses, and genetic counselors, and one for patients. The health professional website will consist of a standardized course describing the new laboratory tests available and explaining the pathways to implementation. The course will be supplemented by newly developed counseling tools, talking points and frequently asked questions. As part of this program, PQF will also build a patient registry to correlate NIPT results with confirmatory diagnostic tests and postpartum outcomes. Additionally, it will help develop optional processes for credentialing healthcare personnel for delivering pre- and postnatal screening information. 

Recent Articles

Engineering a cool career in biotech—and volunteering along the way
Engineering a cool career in biotech—and volunteering along the way
Evidence supports sequencing as first-line rare disease diagnostic
Evidence supports sequencing as first-line rare disease diagnostic
Podcast stories explore unusual and surprising applications of genomics
Podcast stories explore unusual and surprising applications of genomics