Diagnostic Treatment Guidelines Development Fund


The completion of the Human Genome sequence early in the 21st century has made tools widely available for understanding the role of genetics and genomics in human health and disease, and for the development of new tests and treatments for heritable conditions.  A key step in this process is the evidence-based assessment of new tests and treatments and the formulation of clinical practice guidelines that evolve into the standard of care.


The ACMG Foundation for Genetic and Genomic Medicine on behalf of ACMG, has therefore established a fund to develop and disseminate evidence-based practice guidelines that respond to and incorporate frequent, new scientific discoveries in the diagnosis, management, and treatment of genetic conditions—a group of medical problems now spanning the lifecycle from genetic disease detected by newborn screening to common problems of adulthood, such as heart disease and diabetes, to gene-based responses to medications.



Developing practice guidelines is a time- and labor-intensive process.  It involves identifying and convening a group of subject matter experts representing a breadth of perspectives; reviewing the scientific literature, existing practice guidelines and the evidence base; identifying knowledge gaps; and making recommendations only after rigorous deliberation and a weighing of risks and benefits.


The ACMG and ACMG Foundation for Genetic and Genomic Medicine seeks to improve the health and quality of life of people with genetic risks and conditions and to assist healthcare providers worldwide by developing and/or revising, disseminating, and promoting the implementation of these practice guidelines, which are developed to address the most effective diagnosis, management and treatments.


B E N E F I T S   O F   C O N T R I B U T I N G

Donors will be supporting the trusted experts in medical genetics and genomics and assuring that people with genetic risks and conditions detected receive state-of-the-art care.  ACMG’s practice guidelines promise to advance the understanding, diagnosis, management and treatment of these conditions and risks, which ensures the best possible quality of life for patients and their families.  Written under ACMG’s leadership and with its international expertise in medical genetics and genomics, these guidelines will influence practice standards through their dissemination to the point-of-care.  Finally, as with all products of ACMG, the guidelines will promote the general population’s understanding of and confidence in the medical genetics and genomics specialties.


Restricted contributions from individuals, foundations, and corporations to the Diagnostic and Treatment Guidelines Development Fund will be eligible for membership in giving clubs and will be publicly recognized.


For more information about the Corporate Partners Program, click here. For general information, contact Barbara O'Reilly at boreilly@acmgfoundation.org.