The American College of Medical Genetics and Genomics (ACMG) said today it will establish a program designed to develop new evidence-based guidelines in medical genetics and genomics, citing in part the need for unbiased, evidence-based guidelines to help clinicians make the best decisions in the use of genetic and genomic testing. [iStock/© GoodLifeStudio]

The American College of Medical Genetics and Genomics (ACMG) said today it will establish a program designed to develop new evidence-based guidelines in medical genetics and genomics, through a staff team to be created for that purpose.

ACMG’s new Evidence-Based Guidelines (EBG) Program is intended to address what the College articulated as the need for unbiased, evidence-based guidelines to help clinicians make the best decisions in the use of genetic and genomic testing, as well as the need help both government and private health insurers determine coverage options for new tests and treatments.

Until now, ACMG has funded guideline development on an ad hoc basis—an approach the College said was no longer adequate given rapid advances in testing and technology. ACMG said its fundraising arm, the ACMG Foundation for Genetic and Genomic Medicine, has established a fund to support the development of evidence-based guidelines—an effort initiated with a grant by sequencing giant Illumina.

“With the recent explosion of genetic and genomic testing, we see a strong need for evidence-based guidelines that inform decision-making and policy for stakeholders across the healthcare system,” said Phillip Febbo, MD, chief medical officer of Illumina. “ACMG has a membership with the expertise and practical clinical experience to create evidence-based, patient-oriented testing guidelines.”

The amount of Illumina’s grant was not disclosed in ACMG’s announcement of the EBG Program. Illumina has supported various ACMG initiatives since making its first donation to the ACMG Foundation in 2010, including the College’s graduate student training programs, continuing medical education programs, and the overall mission of ACMG.

“We are grateful that Illumina is the founding corporate donor of this program, and look forward to discussing our plans with other corporations, corporate foundations, and partner nonprofit organizations,” Bruce R. Korf, M.D., Ph.D., FACMG, president of the ACMG Foundation.

Exploring Further Options

The ACMG Foundation said it is exploring further funding options toward guideline development. The EBG Program and its dedicated staff will speed up ACMG’s review of its guidelines, the College asserted, with staffers to work closely with the ACMG’s Board of Directors to identify areas where guidelines are needed, or need to be updated.

“Development of impartial evidence-based guidelines in genetic and genomic medicine is one of the most powerful ways in which ACMG can advance both the field of medical genetics and our members’ ability to prevent, diagnose, and treat disease. This new EBG initiative will greatly accelerate this important mission,” Korf stated.

ACMG said it will draw upon nearly three decades of experience publishing peer-reviewed guidelines for both laboratory and clinical geneticists worldwide—experience that includes Clinical Genetics Laboratory Guidelines developed in the early 1990s, and more recently, a new exome sequencing guideline.

“We are thrilled that they have created a process through which guidelines can be developed and updated to keep pace with advances in genetic and genomic medicine and provide critical help to health care providers who are often unsure of the most appropriate testing for their patients,” Febbo added.

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