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Ask the Experts: Developments in Genetic Testing


There’s some controversial discussion happening over on Medstro’s NEJM Group Open Forum: Ask the Authors & Experts, and it’s all about genetics – GINA, the Genetic Information Nondiscrimination Act, in particular.

The authors of a recent NEJM article on GINA tell us that the act was designed “to fully protect the public from discrimination” and also to “allay their concerns about the potential for discrimination, thereby allowing individuals to take advantage of genetic testing, technologies, research and new therapies.” So far the forum has delved into the ethics of genetic testing and the genetic advancements that hold the most potential. Interested? Join the conversation here.

In light of this conversation, we’ve decided to ask many of the participants from that forum about their genetic predictions for 2015.


Kandamurugu Manickam

kandamuruguDr. Murugu Manickam is an Assistant Professor of Clinical Medicine in the Division of Human and Molecular Genetics at Nationwide Children’s Hospital. He also has a joint appointment in the Division of Human Genetics in the Department of Internal Medicine at The Ohio State University and the James Cancer Hospital.

What exciting developments in genetic testing should we expect to see in 2015? “I am a skeptic when it comes to consumer testing but I believe the clinical value of genomics improves incrementally each and every day as more information becomes known. As more and more people get (at minimum) exome level studies, this advances our understanding of variants and how it relates to health. Single nucleotide polymorphism testing has very limited value for changing health in a meaningful way.

Over time genomics will be a better defined tool to use but it is not yet there for a majority of people. For those with rare diseases however, this is the age to get diagnosed; hopefully to be followed by the age to get treated.”

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Jenni Whalen

Jenni Whalen

    Jenni Whalen is the Executive Assistant of Editorial at Upworthy. She was previously MedTech Boston's Managing Editor and has an MS in Journalism from Boston University, as well as a BA in Psychology from Bucknell University. Whalen has written for Greatist, Boston magazine, AZ Central Healthy Living and the New England Journal of Medicine, among other places. She has also worked as a conference planner, ghost writer, researcher and content developer.

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