A Statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Policy Statement

Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Board of Directors1

Disclaimer: These recommendations are designed primarily as an own professional judgment to the specific clinical circumstances educational resource for medical geneticists and other healthcare presented by the individual patient or specimen. It may be prudent, providers to help them provide quality medical genetics services. however, to document in the patient’s record the rationale for any Adherence to these recommendations does not necessarily ensure a significant deviation from these recommendations. successful medical outcome. These recommendations should not be Genet Med advance online publication 23 July 2015 considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtain- Key Words: clinical laboratory geneticist; clinical laboratory genet- ing the same results. In determining the propriety of any specific ics practice; medical geneticist; medical genetics practice; scope of procedure or test, geneticists and other clinicians should apply their practice

This document defines the Scope of Practice for the primary minimum proficiency are maintained throughout the course of specialty of Medical Genetics. It serves as a revision of a 2008 the professional careers of its certified diplomates. For infor- American College of Medical Genetics and Genomics (ACMG) mation about specific education and training requirements for Policy Statement (Scope of Practice, retired; available by spe- each specialty and subspecialty, please refer to the ABMGG cial request to [email protected]), which is being updated to website (http://www.abmgg.org). clearly delineate (i) the evolving role of the specialty of Medical Genetics and (ii) the distinction between Medical Geneticists THE SCOPE OF PRACTICE OF THE SPECIALTY OF and other genetic health-care professionals. Medical Genetics is MEDICAL GENETICS the application of the principles of inheritance and our knowl- The scope of practice of the specialty of medical genetics edge of human genes to diagnose, prevent, and treat diseases includes: and improve health. It is an increasingly broad and unique specialty of medicine that encompasses all organ systems, all peri- • Genetics consultations, in both inpatient and outpa- Genet Med ods of life, and many disease entities. Medical genomics is the tient settings, with the goal of incorporating avail- study of the genome in humans and the relationship of genes able information to make a diagnosis or provide a risk and environment in disease. The Medical Geneticist focuses on assessment 2015 conditions that are or may be heritable or those that arise from • Genetic counseling (as described below) for the patient a specific change at the somatic level (for example, cancer cells). and/or family, including the bidirectional flow of infor- 00 The American College of Medical Genetics and Genomics mation that includes ethical, cultural, religious, and other is the specialty society for American Board of Medical implications of such information to allow for decision 00 Genetics and Genomics (ABMGG) diplomates and others, making by the patient and/or family providing leadership and resources to facilitate the delivery • Treatment of genetic diseases, involvement in clinical tri- 2June2015 of high-quality clinical and laboratory medical genetics ser- als, and natural history studies leading to approval and vices. Medical geneticists are certified by the ABMGG, one use of new, orphan drugs and drugs with specific molecu- 2June2015 of the 24 member boards of the American Board of Medical lar targets Specialties. The specialty of Medical Genetics includes clini- • Early detection and prevention of genetic diseases or their 10.1038/gim.2015.94 cal geneticists (MD/DO or equivalent), Medical Geneticists complications through risk-appropriate surveillance and (PhD) and Clinical Laboratory Geneticists (MD/DO or PhD disease prevention recommendations or equivalent), as well as the clinical subspecialty of Medical • Performing genetic and genomic testing, interpreting Genetics in Medicine Biochemical Genetics (MD/DO or equivalent). The ABMGG such results, and providing these results to physicians to also ensures that high standards of continuous education and facilitate diagnosis, management, and treatment 00

00 1American College of Medical Genetics and Genomics, Bethesda, Maryland, USA. Correspondence: Michael S. Watson ([email protected]) Approved by the ACMG Board of Directors 27 April 2015. Submitted 2 June 2015; accepted 2 June 2015; advance online publication 23 July 2015. doi:10.1038/gim.2015.94

23July2015 Genetics in medicine 1 ACMG Policy Statement ACMG | Scope of Practice

• Roles outside of direct patient care, including public provision of such services. They interact with otherhealth-care health administration, health-professional education, and professionals, especially metabolic dietitians, to provide nutri- research. Most Medical Geneticists hold faculty positions tional recommendations for chronic and acute management and are involved in educational activities in undergradu- of individuals with inborn errors of metabolism. They may ate and graduate medical education and other graduate be involved in the development of new treatments through education activities research and enrolling patients in clinical trials. The Medical Biochemical Geneticist is uniquely qualified and trained to function as the medical home for the metabolic health care of Clinical Geneticists (MD or DO or equivalent) the patient. This subspecialty differs from the primary specialty The medical practice of Clinical Genetics is based on under- of Clinical Biochemical Genetics in that Medical Biochemical standing genetic mechanisms that impact health and disease at Genetics training does not provide the educational experience both a cellular and an organ-system level. Clinical Geneticists necessary to become a director of a clinical biochemical genet- provide consultations, a coordinated clinical service that benefits ics laboratory. specialists from every field of medicine, includingprimary-care providers. A genetics consultation typically consists of a medi- Clinical Biochemical Geneticists, Clinical cal evaluation, genetic risk assessment, and genetic counseling Cytogeneticists, and Clinical Molecular Geneticists and education that together allow for a shared decision-making (MD, DO, PhD, or equivalent) process between the Clinical Geneticist-led team and the Clinical biochemical geneticists, clinical cytogeneticists patient and/or family. The medical evaluation consists of mul- and clinical molecular geneticists often serve as directors tiple components, including a physical examination of the of CLIA-certified clinical laboratories and are qualified to patient or other family members (in a diagnostic setting), risk evaluate laboratory test orders and results within the context assessment, proper ordering and utilization of genetic tests, of clinical findings and family history, allowing them to pro- interpretation of genetic test results in the clinical context, and vide genetic and genomic test results to physicians to facilitate management of inherited conditions. In the evolving practice diagnosis, management, and treatment. This includes inter- of genomic medicine, management of inherited risk through pretation of such results and recommendations for additional prevention strategies and clinical assessment and interpretation testing and genetic counseling. Some individuals are ABMGG- of genomic variants is an especially important part of a Clinical certified in more than one laboratory specialty and have mul- Geneticist’s practice and requires a high level of content knowl- tiple laboratory leadership responsibilities. Historically, some edge of genetic and genomic variation. Clinical Biochemical Geneticists were physicians who became Often, Clinical Geneticists are also board-certified in other board-certified in only this specialty and therefore currently medical specialties and thus have additional responsibilities still provide direct patient care and manage patients with met- and expertise related to their training. Similarly, some Clinical abolic disorders, similar to the roles outlined for the Medical Geneticists are also board-certified in a Clinical Laboratory Biochemical Geneticist. specialty (Clinical Biochemical Genetics, Clinical Cytogenetics, Clinical Laboratory Geneticists are distinguished from other or Clinical Molecular Genetics), and therefore serve as Medical providers of laboratory testing by their specialized clinical fel- Laboratory Directors and interpret genetic and genomic lowship training and certification through ABMGG. Their test results. In the event the provision of genetic health care training is directly applicable to both heritable disease testing includes additional members of the genetic health-care team, and genetic and genomic testing for pharmacogenomics and the Clinical Geneticist is uniquely qualified and trained to acquired conditions (such as the somatic genomic changes seen assume overall responsibility for the genetic health care of the in tumor cells). These uniquely trained laboratory specialists are patient and, sometimes, other family members. responsible for oversight and management of their clinical laboratory staff to ensure that accurate genetic/genomic test results Medical Biochemical Geneticists (MD or DO or equivalent) are provided to physicians and patients. They must ensure that The expansion of newborn screening and the potential to clinical genetic and genomic laboratory tests are performed in improve outcomes for individuals diagnosed with inborn accordance with all applicable rules and regulations, as required. errors of metabolism created a need for a clinical geneticist with They ensure that standards and guidelines for laboratory pro- additional subspecialty training in the diagnosis and long-term cedures, such as the American College of Medical Genetics management of individuals with inherited metabolic diseases. and Genomics Technical Standards and Guidelines for Clinical Medical Biochemical Geneticists provide comprehensive diag- Genetics Laboratories, are followed. The combination of provid- nosis, life-long management, and genetic counseling services ing accurate laboratory results and reporting and interpreting for patients with inborn errors of metabolism, including genetic such results by an ABMGG-certified laboratory director, and disorders of intermediary metabolism, lysosomal storage dis- integration and clinical interpretation of these results in the con- eases, disorders of energy metabolism, and related disorders. text of a patient’s phenotype by the Clinical Geneticist provides They use their knowledge of the natural history of the disorder, the best opportunity to establish a patient’s diagnosis or assess a ordering and interpreting specialized laboratory testing in the patient’s risk and implement appropriate management.

2 Genetics in medicine Scope of Practice | ACMG ACMG Policy Statement

PhD medical geneticists history documentation, pedigree analysis, review of records, Diplomates with this specialty certification possess broad genetic counseling, explanation of genetic and genomic test knowledge of human and medical genetics, including an under- results). Genetic counseling is a bidirectional communica- standing of genetic disorders and the uses, limitations, inter- tion process that facilitates patient decision making sur- pretation, and significance of specialized laboratory and clinical rounding the genetics evaluation; as such, it requires input procedures and medical genetics principles. The PhD Medical from the clinician. Taken together, the genetics evaluation Geneticist serves as a member of the clinical geneticist–led and genetic counseling allow for a shared decision-making team, constructing pedigrees, integrating clinical and genetic process between the clinical geneticist–led team and the information (including laboratory test results, such as exome patient and/or family. The Clinical Laboratory Geneticist or genome sequence data), family history, and findings from provides diagnostic test results and interpretation necessary diagnostic evaluations performed by a physician; and providing to establish a diagnosis. The Medical or Clinical Biochemical genetic counseling. In addition, a PhD Medical Geneticist may Geneticist provides additional expertise and management perform complex risk assessments and paternity and forensic for a patient with an inborn error of metabolism. After a computations. consultation, the clinical geneticist often remains involved as a key member of a patient or family’s health-care team DELIVERY OF GENETIC AND GENOMIC and may serve as the patient’s medical home since they are HEALTH CARE best acquainted with the related medical issues, longitudinal The delivery of genetic and genomic health care often requires care, and anticipatory guidance. the combined knowledge of the various specialists discussed As evidenced above, the Scope of Practice of the Medical above. A genetics evaluation is a medical process that results Geneticist is broad and includes direct patient care, genetic in clinical decision making, typically involving a differential counseling, education, and laboratory medicine. The primary diagnosis, genetic risk assessment, testing strategy (including specialty of Medical Genetics continues to evolve as new disor- ordering and interpreting the results of genetic and genomic ders are identified, new technologies become available, and new tests in the context of a patient’s phenotype), and recom- treatments become the standard of care. As such, the American mendations specific to the genetic risk for that patient or College of Medical Genetics and Genomics Scope of Practice diagnosis. The Clinical Geneticist is responsible for all com- will continually be adapted to meet the needs of the patients ponents of the genetics evaluation, although a trained and served by Medical Geneticists. supervised nonphysician genetic health-care professional (e.g., genetic counselor, nurse, PhD Medical Geneticist) may DISCLOSURE perform some components of the evaluation (e.g., family The authors declare no conflict of interest.

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