Monday, September 21, 2015

Everything You May Not Have Realized You Wanted to Need and Know About Genomic Sequencing

By: Lewis First, MD, MS; Editor-in-Chief         
     More and more we are recognizing the benefits and the risks, especially ethical risks of genomic sequencing studies on pediatric patients.  If you have not yet had a patient need genomic sequencing, it is only a matter of time until this technique becomes cost-effective and available to be ordered at the primary care level—maybe not just yet, but it’s coming soon.  To help all pediatricians better understand how to communicate and in turn interpret these tests, given the uncertainty of the data we can now get through sequencing, some assistance is needed.  Fortunately this week we are releasing two articles that we feel are good ones to read and file in your folder of articles to turn to when faced with a family asking or whom you feel needs genomic sequencing.   
     McCullough et al. (doi: 10.1542/peds.2015-0624) offers an ethical backbone to help us disclose results to families who have sequencing performed on their child.  This special article guides us through the process of how to recommend sequencing and then discuss the results and implications using core concepts of medical ethics.  Adding to this article is an accompanying commentary by geneticist Dr. Leah Burke (REF) that provides insight into how sequencing will become more and more integrated into the care we deliver.           
      Read the article and commentary in sequence and you’ll probably find yourself referring back to both as genomic sequencing becomes more and more a part of primary and specialty care practice.

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