Photos from our July symposium

We had such an amazing day at our Stakeholder Perspectives in Noninvasive Prenatal Screening Symposium in July, held in conjunction with the 2015 ISPD (International Society for Prenatal Diagnosis) meetings. Indeed, we’re still processing all the great information and discussions of that day, and hope to produce some more cohesive thoughts on it in a publication or two. Meanwhile, here are few photos – if you have more, please share!

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See you at ISPD 2015!

PIRC is well-represented at the 2015 annual meeting of the International Society for Prenatal Diagnosis this upcoming week in Washington, DC. Look for PIRC collaborators Stephanie Alessi, Megan Allyse, Shubha Chandrasekharan, Mark Leach, Stephanie Meredith, Marsha Michie, and Vardit Ravitsky at the conference, or contact us to set up a meeting.

PIRC-affiliated studies that are featured in ISPD poster presentations this year include:

Our collaborators are also presenting posters on other projects. See the Events page for a list of poster titles.

Last but certainly not least, don’t forget to join us for the Stakeholder Perspectives in Noninvasive Prenatal Genetic Screening Symposium, Thursday, July 16th at the Carnegie Library at Mount Vernon Square, just across the street from the Washington Marriott Marquis. The day-long agenda features an amazing set of speakers from a wide range of perspectives. Symposium registration is still open.

See you in DC!

How do we deal with NIPGS and ‘The Big C’?

Stories have been circulating for a while now that anomalous non-invasive prenatal genetic screening (NIPGS) results may sometimes indicate maternal cancer. Recently, however, these anecdotes have given way to more rigorous data, from a group of researchers at University of Leuven in Belgium, and from US companies Sequenom and Illumina.

Laura Linney in The Big C; photo from http://popculturezoo.com/2010/11/take-a-peek-at-the-weeds-and-the-big-c-season-finales/
Laura Linney in television show “The Big C” (photo from http://popculturezoo.com/2010/11/take-a-peek-at-the-weeds-and-the-big-c-season-finales/)

For many this new discovery is not all that surprising. For several years now, researchers have been pursuing a test, based on cell-free DNA, that would provide a reliable “liquid biopsy.” Indeed, such tests are already being used clinically in limited circumstances, though–as with NIPGS–the rapid translation of this technology has left important questions about reliability and actionability as yet unanswered. Even more promising, sequencing cell-free DNA may circumvent some of the problems recently proposed with sequencing tumor DNA without matched controls from normal tissue–because both kinds of DNA will be present in serum, and can be distinguished by their relative frequency, much as NIPGS does with fetal and maternal cell-free DNA. Continue reading How do we deal with NIPGS and ‘The Big C’?

ESHG and ASHG call for “responsible innovation” in non-invasive prenatal screening

DNA double helix with data
Photo credit: Jonathan Bailey, NHGRI.

The European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) yesterday issued a joint position document calling for “responsible innovation” in the development, translation and clinical implementation of non-invasive prenatal genetic screening (NIPGS). In a lengthy statement authored by international experts (including Wybo Dondorp, Diana Bianchi, and Lyn Chitty), the two professional societies explored many of the ethical issues raised by NIPGS, issuing ten recommendations for addressing these issues, summarized here: Continue reading ESHG and ASHG call for “responsible innovation” in non-invasive prenatal screening

Connect with us at ACMG!

Several PIRC members will be presenting research at the ACMG Clinical Genetics Meeting in Salt Lake City next week. We would love to meet you! Authors will be presenting their posters on Thursday, March 26th from 10:30-12. Drop by to ask questions, give us feedback, and talk about ways we can connect and collaborate:

See you in Salt Lake City!