Our Work

Stakeholder Perspectives on Noninvasive Prenatal Genetic Testing: What we have learnt and where we are going.

Project Objectives

We propose to hold a one-day conference to bring together a broad range of stakeholders to discuss the ethical, legal, social, and policy implications of a new type of prenatal genetic testing. Three years ago, non-invasive prenatal testing (NIPT) was commercially introduced in the US. NIPT can detect common chromosomal abnormalities in a fetus with relatively high accuracy via a simple maternal blood draw reducing the need for unnecessary invasive procedures that carry a small risk of miscarriage. NIPT is improving prenatal genetic testing in the US and elsewhere, and has been rapidly embraced by both healthcare providers and patients. However, this new test is expensive ($800-$3000 ), which makes it inaccessible for lowresource women in the US and in the developing world. Global availability of this test is expanding, and currently covers 90 countries, including many low- and middle-income countries (LMICs) in South America, Africa, the Middle East, South and Southeast Asia. Observers have raised a number of ethical concerns about the use of NIPT, including securing informed consent, inequity in access to testing, and stigmatization of people living with the genetic conditions this test detects (like Down syndrome). These concerns are further amplified in LMICs by infrastructure challenges surrounding prenatal care and genetic services, as well as socio-cultural and legal issues such as laws restricting abortion and the practice of selective abortion of female fetuses. In order to create greater awareness about the ethical, legal, and social issues as well as the experiences/ perspectives of different stakeholders on NIPT, we will hold a one-day meeting in conjunction with 15th annual meeting of the International Society for Prenatal Diagnosis and Therapy (ISPD) in Washington, D.C. on July 16, 2015. Since ISPD will attract clinicians from around the world, and will primarily focus on the technical/clinical aspects of NIPT, our conference will provide a unique opportunity to inform and educate clinicians about important social and ethical concerns. Importantly, it will also provide a forum for multiple stakeholders, including payers, patient advocates, regulators, public health experts, and policymakers, to discuss these issues and related policy questions. Based on the discussions at the conference, we will prepare several manuscripts for publication to raise awareness about stakeholder perspectives and to facilitate their integration into policy decisions about the use of NIPT going forward.

Project Outcomes

A successful one day conference on July 15 2015 in Washington DC that brought together over 80 participants and speakers together to discuss the current and upcoming challenges for effective and ethical clinical implementation of cell free DNA screening based prenatal genetic screening.

The conference was the first to bring together representatives of several patient advocacy organizations to share their perspectives and experiences on these new prenatal tests. The collaboration with the Patient Advocacy Groups led to a peer reviewed commentary in Prenatal Diagnosis, See Attached CV Meredith et al 2016.

Project Policy Impact Description

The commentary published based on the discussions that started at the conference laid out recommendations for professional societies and industry to better engage with and support patient advocacy organizations and their members in use of these tests.

Locations

Collaborators

  • University of Montreal

Project Status

Completed

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