prenatal diagnostics

Paul Kruszka of GeneDx/Sema4 on Groundbreaking Newborn Sequencing Study

Last week, during the first International Conference on Newborn Sequencing, a landmark study to sequence the genomes of 100,000 newborns was announced. Called the GUARDIAN study, the project is the brainchild of Wendy Chung, Professor of Pediatrics at Columbia University. The study will take place in New York State and is somewhat similar to an ongoing project in the U.K. being done by Genomics England.

GeneDx/Sema4 has been chosen as the commercial lab partner for the study, and we're joined by their Chief Medical Officer, Paul Kruszka to learn about the parameters and goals of this historic study in North America.

First of all, Paul says the study goes from the 50 conditions currently being screened to 260 conditions, but that could go up during the study.

"We can expand. This is scalable. As new treatments become available in the future, we can scale past this. As a matter of fact, we're already working on the version 2 gene list. We're going to add about 100 more new genes. This is a living breathing project. The field is changing rapidly," he says.

As he infers here and says later in the program, it is the new treatments available that are driving the push toward whole genome sequencing for newborns. The therapeutic side is pushing the diagnostic side.

"Therapeutic advances are making this a necessity," he says.

There's now near consensus in the field among the guests we talk to on this program that we are headed toward whole genome sequencing at birth. How big a step in that direction is this study? What will success look like, and what will be the major obstacles?

Congrats to Wendy Chung and GeneDx/Sema4 on such a bold and important effort for patients and parents of patients.

Ethical Issues around Editing Human Germline for the Future. Today It's about Plants and Animals, Says NYU's Art Caplan

 Art Caplan is a prodigious writer on the topic of medical ethics. How prodigious? How about thirty-two books and over 700 peer reviewed papers on ethical conundrums ranging from organ donation to end of life care.

He spends about half his time as a public figure, engaging the lay audience, for example, through op-eds like his recent piece for the Washington Post arguing that doctors who oppose vaccination should lose their license. The other half of his time he spends developing materials meant for an academic audience.

In today’s interview, Art begins by saying that ethical issues around the genome editing of plants and animals are much more pressing today than the current furor over human germline editing. That we can leave to our grandchildren, he says. What we must pay more attention to now is the introduction of genetically engineered mosquitos into the ecosystem.

Well versed in all of the major ethical issues which have surfaced here at Mendelspod, including the rise of prenatal diagnostics and abortions and the evolution of privacy, Art is pro science and technology, yet still sees himself like a “biblical prophet."

Just what is the role of a bioethicist? Is it possible to slow down science and technology?


Inside the World of Prenatal Diagnostics: Charles Cantor, Sequenom


Charles Cantor, PhD, Chief Scientific Officer, Sequenom

Bio and Contact Info

Listen (6:39) What led you to Sequenom?

Listen (3:08) What has been the biggest challenge in commercializing NIPT?

Listen (6:12) Sequenom view on patent controversy

Listen (6:33) How good is the quality of the tests?

Listen (2:48) Do you plan to submit tests to FDA?

Listen (5:25) Diagnosing cancer during pregnancy and the issue of incidental findings

Listen (2:44) Three improvements needed from sequencing tools

Listen (3:07) The possibilities of in-utero therapy

On October 17 of 2011, Sequenom announced a clinical study had been published in the journal of Genetics in Medicine on their new sequencing based prenatal test for Down Syndrome. On the same day, the company launched their MaterniT21test. The rapid clinical adoption of this test--and those from three competing companies -- is without a doubt the biggest success story for the use of DNA sequencing in the clinic. According to the Wall Street Journal, in 2012, Sequenom alone sold 61.000 tests.

Today Fortune ran a piece on non-invasive prenatal testing (NIPT) predicting "the adoption of NIPT across the board as a standard test for all pregnant mothers, something as routine as ultrasound."

What has been the biggest challenge in commercializing a test using DNA sequencing? Does Sequenom have plans to submit the test to the FDA for approval? Dr. Cantor is not shy about answering tough questions. In today's show he walks us through the challenges the company faces, including emerging ethical quandaries such as the question of reporting incidental findings and the new possibilities for in-utero therapy.

Podcast brought to you by: Myraqa Clinical Research: The CRO for Point of Care and PMA Diagnostics.

and by: Roche Molecular Systems: A proud sponsor of today's podcast.