INTRODUCTION

The American College of Medical Genetics and Genomics (ACMG) Technical Standards for Clinical Genetics Laboratories are developed primarily as an educational resource for Clinical Laboratory Geneticists, to assist them in providing accurate and reliable genetic testing consistent with currently available technologies and procedures in the areas of Clinical Cytogenetics and Genomics, Clinical Biochemical Genetics, and Clinical Molecular Genetics and Genomics. These technical standards represent voluntary standards that establish criteria for Clinical Genetics Laboratories to provide accurate and reliable diagnostic testing that is consistent with current technologies, procedures, and regulatory bodies. They are written through a consensus development process, by experts in the field, and rely on published data and experience. These technical standards establish minimal criteria for Clinical Genetics Laboratories. Many laboratories will exceed these minimal standards. Adherence to these technical standards is voluntary and does not necessarily assure a successful medical outcome. These technical standards should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the Clinical Laboratory Geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical Laboratory Geneticists are advised to take notice of the date any particular technical standard was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

The ACMG Technical Standards for Clinical Genetics Laboratories continue to be maintained and updated by the ACMG Laboratory Quality Assurance Committee. They are reviewed and revised periodically to ensure their timeliness in this rapidly developing field. This edition contains significant revisions and updates in all sections. This edition includes the following seven sections:

  • Section A: Overview
  • Section B: Personnel Policies
  • Section C: General Policies
  • Section D: Shared Methodologies
  • Section E: Clinical Cytogenetics Technical Laboratory Standards
  • Section F: Clinical Biochemical Genetics Technical Laboratory Standards
  • Section G: Clinical Molecular Genetics Technical Laboratory Standards

The disease-specific and special topic laboratory standards can be accessed separately under the “Disease Specific/Special Topic Documents” tab.

Over the years, both laboratory and clinical geneticists have found these Technical Standards for Clinical Genetics Laboratories to be valuable resources in facets of their work that extend beyond direct patient care and training the next generation. They have proven to be excellent medical genetics board review materials and educational tools. When teaching medical genetics/genomics trainees, health professionals, or even students in bioethics, law or public policy, sections of these technical standards can be added to a syllabus as examples of standards for professional practice.

Disclaimer: These ACMG Technical Standards for Clinical Genetics Laboratories are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards is voluntary and does not necessarily assure a successful medical outcome. These standards should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient’s record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these standards. They also are advised to take notice of the date any particular technical standard was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

Acknowledgement: These “Technical Standards for Clinical Genetics Laboratories” have been maintained as a valued practice and educational resource of the American College of Medical Genetics and Genomics for over two decades. The members of the 2020 Laboratory Quality Assurance Committee wish to recognize, with gratitude, the ACMG members—both laboratory and clinical geneticists, too numerous to name individually—who have developed, reviewed and revised the sections of this document throughout the years.

If you have any questions or wish to provide any information, please click here.