domingo, 26 de julio de 2015

ACMG Provides Recommendations on Genetic Testing Through the Choosing Wisely® Campaign


American College of Medical Genetics provides recommendations on genetic testing through the Choosing Wisely® Campaign,External Web Site Icon ACMG, July 10, 2015

ACMG Provides Recommendations on Genetic Testing Through
the Choosing Wisely® Campaign
The American College of Medical Genetics and Genomics (ACMG) has released a list of five things patients and providers should discuss regarding specific genetic tests as part of Choosing Wisely, an initiative of the American Board of Internal Medicine (ABIM) Foundation.  The just-released list identifies five evidence-based recommendations that can improve encounters between patients and clinicians regarding genetic testing.  To date, more than 100 national and state medical specialty societies, regional health collaboratives and consumer partners have joined the Choosing Wisely campaign about appropriate care.
The list provided by ACMG offers evidence-based recommendations to help all clinicians and patients in their conversations about making wise choices related to genetic testing.  The list was developed over the past year with careful consideration of the latest evidence, expert opinions and research.
As a trusted voice on matters related to genetic and genomic testing, ACMG brings valuable expertise and a focus on genetics in medicine to the Choosing Wisely campaign.  The five recommendations identified by ACMG are listed below.
Five topics that address appropriate genetic test ordering:
1.  Do not order a duplicate genetic test for an inherited condition unless there is uncertainty about the validity of the existing test result. 
2.  Do not order APOE genetic testing as a predictive test for Alzheimer disease.
3.  Do not order MTHFR genetic testing for the risk assessment of hereditary thrombophilia. 
4.  Do not order HFE genetic testing for a patient without iron overload or a family history of HFE-associated hereditary hemochromatosis.  
5.  Do not order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings.
Kristin Monaghan, PhD, FACMG, ACMG Board member and one of the authors of the ACMG Choosing Wisely list of recommendations said, "ACMG is delighted to be part of the ABIM Foundation’s Choosing Wisely campaign. As genetics and genomics continue to play an increasingly important role in all aspects of patient care, we know that patients will have more questions and we hope this Choosing Wisely list provides some helpful direction for clinician-patient dialogue about genetic and genomic testing."
"All clinicians, including medical geneticists, play a key role in making sure that the appropriate tests and treatments are prescribed. We hope the ACMG recommendations will help inform important conversations about genetic tests on this list," added ACMG vice-president of Clinical Genetics Maren T. Scheuner, MD, MPH, FACMG, and co-author of the ACMG Choosing Wisely List of Recommendations.
How this list was created
The ACMG list relies on the expertise of a number of committees that develop clinical practice guidelines and laboratory technical standards and guidelines.  For the Choosing Wisely campaign, input from the Laboratory Quality Assurance Committee, Professional Practice and Guidelines Committee and Therapeutics Committee was solicited.  A list of 18 items was reviewed by the ACMG Board of Directors and the 5 items currently thought to most likely improve quality and reduce costs related to genetic testing were selected.
To learn more about Choosing Wisely and to view the complete lists of recommendations click here.
Note: The items on the ACMG list are provided solely for informational purposes and are not intended as a substitute for consultation with a medical professional.  In determining the propriety of any specific procedure or test, patients should consult with their individual clinicians and clinicians should apply their own professional judgment to the specific clinical circumstances presented by each individual patient.

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