ACMG is committed to supporting the advancement of the evidence-based practice of genetic and genomic medicine through the development of clinical practice guidelines informed by a systematic review of the evidence.

Published Evidence-Based Clinical Practice Guidelines

  1. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability (2021)
  2. Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population (2022)
  3. Phenylalanine hydroxylase deficiency diagnosis and management (2023)

Topics for Evidence-Based Clinical Practice Guideline Development in 2025

  1. Rapid exome and genome sequencing in the pediatric intensive care setting
  2. Next-generation sequencing for the genetic diagnosis of autism spectrum disorder

Overview of the Evidence-Based Clinical Practice Guideline Development Process

The evidence-based clinical practice guideline development process at ACMG follows five phases.

Overview of the Evidence-Based Clinical Practice Guideline Development Process image

Phase 1. Project Setup

Once a topic has been selected for evidence-based clinical practice guideline development, a multidisciplinary guideline panel consisting of relevant interest-holders is established. Interest-holders consist of, but are not limited to, clinical geneticists, laboratory geneticists, genetic counselors, metabolic dietitians, patient representatives, bioethicists, and other health care professionals who are involved in the care of patients identified as the target population for the clinical guideline. The guideline panelists are content experts who will use the best available evidence to develop recommendation statements in phase 3 of the process. Each guideline panelist is expected to disclose all financial and non-financial conflicts of interest during this phase. All disclosures are reviewed by ACMG’s Conflict, Composition, Procedure Review (CPR) Committee. Recommendations for conflict of interest (COI) mitigation and management are conveyed to the guideline panelists where needed. Guideline panelists are also expected to update their COI disclosures each time a change occurs, and at minimum, at the beginning of every phase of the guideline development process outlined below.

Phase 2. Systematic Review of Evidence

ACMG’s evidence-based clinical practice guideline development process is supported by experienced third-party guideline methodology contractors tasked to perform the systematic review of evidence for the guideline panel and to facilitate the application of evidence to recommendation development. By contracting with external methodology teams, ACMG is prioritizing the maintenance of scientific independence to minimize the risk of introducing systematic biases to the process.

Phase 3. Guideline Document Development

Facilitated by the methodology contractors, the guideline panel will interpret the review findings and develop recommendation statements by using GRADE’s Evidence-to-Decision framework, considering contextual factors. Recommendation statements are labeled following GRADE’s standard nomenclature for describing the strength of recommendation (i.e., strong or conditional recommendation) and quality of evidence (i.e., high, moderate, low and very low certainty of evidence). If the guideline panel includes a recommendation statement that does not have supporting direct or indirect evidence, clear labeling to indicate that the statement is based on expert opinion will be provided.

Phase 4. Guideline Document Completion and Public Comment

The completed guideline draft undergoes a series of reviews by various ACMG committees and the Board of Directors before being opened for public comment. ACMG members are invited to critically review the document and provide feedback. Feedback that is received is discussed by the guideline panel. The finalized guideline document incorporates feedback received during the open comment period and is submitted to the Board of Directors again for final approval.

Phase 5. Publication, Dissemination, and Updating

Once the guideline document is approved by the Board of Directors, the document is submitted for publication, and additional dissemination activities will follow. Every guideline is reviewed and updated with current evidence every five years. Depending on the topic and the evolution of evidence, certain guidelines may undergo updates sooner than others.

ACMG uses a continuous improvement model in its clinical practice guideline development process to ensure that it follows the evidence-based health care industry’s best practices over time.

ACMG’s evidence-based clinical practice guidelines are funded entirely using ACMG’s annual operational budget and are not directly funded by industry.

If you have questions about the program, please email documents@acmg.net and include this subject line: Evidence-based Clinical Practice Guidelines.