Navigation Links
For the first time, recommendations offer guidance about incidental genetic findings
Date:3/21/2013

Boston In a highly anticipated report, landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing are being issued from the American College of Medical Genetics and Genomics (ACMG). A report of the recommendations, led by Robert C. Green, MD, MPH, a medical geneticist at Brigham and Women's Hospital (BWH), outlines for the first time a minimum list of genetic conditions, genes and variants that laboratories performing clinical sequencing should seek and report to the physicians that ordered the testing -- regardless of the original reasons for which the test was ordered.

"If, as expected, these recommendations are adopted by laboratories and clinicians, they will have important implications," said Green, who also co-chaired the ACMG Working Group that developed the recommendations. "As clinical sequencing becomes more widespread, laboratories are looking for guidance on how and what should be communicated to clinicians when results are analyzed. These recommendations will allow a small percentage of families to learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for."

The recommendations are the result of a year-long process which included review by outside experts and approval by the ACMG Board of Directors. Leslie Biesecker, MD, chief and senior investigator of the Genetic Diseases Research Branch at the National Human Genome Research Institute co-chaired the working group with Dr. Green.

"Incidental findings" are health-related interpretations of a patient's genetic code that are unrelated to the primary reason for ordering the genetic testing. For example, if a clinician orders exome or genome sequencing to analyze genes related to a patient's cardiac condition, the laboratory will already have information about all the other genes in hand and could examine genes for something like cancer predisposition with relative ease. Should a known or suspected mutation be found in a cancer predisposition gene, the laboratory would report this incidental findings back to the ordering clinician, and the clinician and patient could take steps to screen for cancer. However, in the absence of accepted guidelines about which variants to search for and which results to return to the clinician, laboratories have been uncertain whether to search for or report results beyond those that the doctor ordered.

"We are at an early stage in the implementation of genomic medicine, and this is a difficult topic to manage because there is not yet much scientific evidence to support whether returning incidental findings can provide medical benefit," said Dr. Green. "Based upon existing evidence and clinical judgment, our Working Group of medical geneticists, genetic counselors, ethicists and molecular laboratorians reached consensus that a small number of conditions, genes and variants were likely to have a positive impact on the health of patients and their families if incidentally identified and reported."

In assembling this list, the Working Group prioritized the disclosure of disorders where:

  • Preventative measures and treatments exist
  • Patients might not experience symptoms for a long period of time
  • The genetic mutations are well recognized and known to have a strong link of causation

Examples of diseases recommended for disclosure include rare hereditary cancers and rare heart diseases that could result in sudden cardiac death. The full recommendations are available on the ACMG's website.

Because clinical sequencing is an entirely new technology, the recommendations include several provisions that deviate from established practices in medical genetics. For example, the Working Group did not recommend giving patients a choice of whether or not their physician would receive positive results from the list of recommended incidental findings. The Working Group also recommended that adult-onset conditions on the list be reported even when the patient is a minor. Dr. Green acknowledged that these recommendations diverge from current practices in medical genetics, explaining, "Sequencing offers a brand new way of looking at genetic testing. The Working Group believes that when we can detect findings that could provide clues to a dangerous condition for which a medical intervention may be possible, laboratories and clinicians have a responsibility to alert the patient's physician, as is done in the rest of medical practice."

The report makes it clear that the recommendations are a starting point that will and should be updated regularly as scientific evidence accrues about genetic conditions. The ACMG will establish an ongoing process for updating the recommendations.


'/>"/>

Contact: Tom Langford
tlangford@partners.org
617-534-1605
Brigham and Women's Hospital
Source:Eurekalert

Related medicine news :

1. First targeted nanomedicine to enter human clinical studies
2. First contact: Early intervention key in diagnosis and treatment of serious mental illness
3. Donor Kidney Re-Used in Second Patient After Failing in First
4. Many Who First Misuse Prescription Pills Get Them From Friends, Family: Report
5. First-of-its-kind Menopause Map helps women navigate treatment
6. First recipients of AcademyHealths Presidential Scholarship announced
7. Kessler Foundation researchers present at first International Congress on Cognition in MS
8. Whos the Dad? First-Trimester Blood Test May Tell
9. AGA releases first independently developed ABIM-approved Practice Improvement Module in GI
10. Dr. Yael Mosse will receive first Nachman Award in Pediatric Oncology at national conference
11. First study investigating possible link between sunscreen ingredient and endometriosis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/28/2017)... ... March 28, 2017 , ... Neurotechnology , a ... time and attendance tracking products: the new NCheck Cloud Bio Attendance cloud-based service ... uses biometric face recognition to enable users to check in and out from ...
(Date:3/28/2017)... ... , ... Columbus OH. Dr. Justin Harper, Founder of Juvly Aesthetics in Ohio ... country to sit on the 2017 National Advisory Board for Allergan’s Facial Aesthetics National ... helped propel the clinic from a small start-up to number 78 in the country ...
(Date:3/28/2017)... ... March 28, 2017 , ... The ... in Atlantic City March 13-16, was a busy spot this year. Liz Solovay ... discussed strategies for preventing outbreaks among camp communities during the upcoming 2017 camping ...
(Date:3/28/2017)... MO (PRWEB) , ... March 28, 2017 , ... ... of job satisfaction in their profession as their value increases in the healthcare ... that provides resources such as job boards, career fairs, and candidate leads to ...
(Date:3/27/2017)... Eau Claire, WI (PRWEB) , ... March 27, ... ... currently accepting new patients for custom smile makeovers without requiring a ... needs including orthodontics, gum disease treatment, cosmetic dentistry and dental implants. Whether patients ...
Breaking Medicine News(10 mins):
(Date:3/28/2017)... 28, 2017 This morning,s ... four stocks: The Medicines Co. (NASDAQ: MDCO), Ironwood ... PCRX), and Supernus Pharmaceuticals Inc. (NASDAQ: ... Drugs space which is governed by the same ... for the industry are wholesalers, retailers, pharmacies, and ...
(Date:3/28/2017)... CITY, Calif. , March 28, 2017 /PRNewswire/ ... company focused on the development and commercialization of ... pain, announced that the European Medicines Agency (EMA) ... sublingual tablet, 30 mcg) Marketing Authorisation Application (MAA) ... of the MAA is underway. The MAA for ...
(Date:3/28/2017)... The global surgical sealants ... of USD 4.5 billion by 2025, according to a ... of injured tissues post operation is a major step ... in 3% to 15% of cases and are considered ... third of postoperative deaths in patients. Surgical sealants and ...
Breaking Medicine Technology: