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`ABMGG > Training & Certification > Training Options
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`Training Options
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`Updated August 4, 2017
`
`The American Board of Medical Genetics and Genomics (ABMGG) certifies individuals in
`various specialty areas of medical genetics and genomics. Medical genetics and
`genomics encompasses the application of genetics and genomics to medical care and as
`such is recognized by the American Board of Medical Specialties (ABMS)
`[www.abms.org] as one of the primary medical specialty certification boards.
`
`The field of medical genetics and genomics is comprised of several different specialties.
`Of these, ABMGG currently offers certification in five specialties and two subspecialties,
`as outlined below. To be eligible for certification by the ABMGG, an individual must
`complete all training requirements, meet the specified criteria in the area of desired
`certification and provide the required supporting documentation.
`Specialties in Medical Genetics and Genomics
`
`General Information
`
`Clinical Genetics and Genomics
`
`Requirements and
`Application
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`Exam Essentials
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`A clinical geneticist is a physician who holds a U.S. or Canadian earned M.D. or D.O.
`degree, or equivalent*, who has trained a minimum of one year in an ACGME-
`accredited residency (that includes 12 months of direct patient care), and then has
`completed an ACGME-accredited residency in medical genetics and genomics. This can
`be done in a two-year categorical residency or in one of the 4-year combined residency
`training programs (combined programs with Medical Genetics and Genomics are offered
`with Pediatrics, Internal Medicine, Maternal Fetal Medicine, or Reproductive
`Endocrinology & Infertility). A clinical geneticist demonstrates competence to provide
`comprehensive genetic diagnostic, management, therapeutic, and counseling services.
`
`These requirements imply that the individual possesses:
`
`broad knowledge in medical genetics and genomics, including an understanding of
`heterogeneity, variability, and natural history of genetic disorders;
`diagnostic and therapeutic skills in a wide range of genetic disorders;
`the ability to elicit and interpret individual and family histories;
`the ability to integrate clinical and genetic and genomic information and
`understand the uses, limitations, interpretation, and significance of specialized
`laboratory and clinical procedures;
`the expertise in genetic and mathematical principles to perform risk assessment;
`the skills in interviewing and counseling techniques required to: (1) elicit from the
`patient or family the information necessary to reach an appropriate conclusion;
`(2) anticipate areas of difficulty and conflict; (3) help families and individuals
`recognize and cope with their emotional and psychological needs; (4) recognize
`situations requiring psychiatric referral; and (5) transmit pertinent information in
`a way that is comprehensible to the individual or family; and
`knowledge of available health care resources (community, regional, and national)
`required for appropriate referral or support.
`
`Clinical Biochemical Genetics
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`Horizon Exhibit 2019
`Lupin v. Horizon
`IPR2018-00459
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`A diplomate certified in clinical biochemical genetics is an individual with a U.S. or
`Canadian earned doctoral degree (M.D., D.O., Ph.D.), or equivalent*, who can direct
`and interpret biochemical analyses relevant to the diagnosis and management of human
`genetic diseases, and who acts as a consultant regarding laboratory diagnosis of a
`broad range of biochemical genetic disorders.
`
`
`These requirements imply that the individual possesses:
`
`the ability to supervise and direct the operations of a clinical biochemical genetics
`diagnostic laboratory, including technical expertise and knowledge in quality
`control and quality assessment procedures and adherence to regulatory
`requirements (e.g., CLIA, CAP);
`broad knowledge of (1) basic biochemistry and genetics, (2) the application of
`biochemical techniques to the diagnosis and management of genetic diseases,
`and (3) the etiology, pathogenesis, clinical manifestations, and management of
`human inherited biochemical disorders;
`an understanding of the heterogeneity, variability, and natural history of
`biochemical genetic disorders;
`diagnostic and interpretive skills in a wide range of biochemical genetic problems;
`and
`the ability to communicate biochemical laboratory results in the capacity of
`consultant to medical genetics professionals and other clinicians, and directly to
`patients in concert with other professional staff.
`
`Laboratory Genetics and Genomics (check out the Laboratory Genetics and
`Genomics FAQs)
`
`A diplomate certified in Laboratory Genetics and Genomics is an individual with a U.S.
`or Canadian earned doctoral degree (M.D., D.O., Ph.D.), or equivalent*, who can direct
`and interpret both clinical cytogenetic and molecular genetic analyses relevant to the
`diagnosis and management of human genetic disease. These individuals act as
`consultants in laboratory diagnoses for a broad range of molecular and chromosomal-
`based disorders, including both inherited and acquired conditions.
`These requirements imply that the individual must possess:
`
`
`
`the ability to supervise and direct the operations of a clinical molecular genetics or
`clinical cytogenetics diagnostic laboratory, including requisite technical expertise,
`understanding of quality control and quality assessment procedures and
`adherence to regulatory requirements (e.g., CLIA, CAP);
`an understanding of the etiology, heterogeneity, variability, natural history and
`clinical management of disorders with a cytogenetic or molecular basis;
`an understanding of basic molecular biology, chromosome biology and genomic
`mechanisms of disease;
`the ability to select and apply the most appropriate current and evolving
`technologies, including karyotype, FISH, microarrays and next-generation DNA
`sequencing methodologies, to diagnose human disease.
`the ability to guide the development and validation of appropriate assays used in
`the evaluation of disorders with a chromosomal or molecular basis;
`the ability to interpret a broad range of genetic diagnostic tests, including
`methodologies that assess for chromosomal aneuploidies, structural chromosome
`rearrangements, genomic copy number variants (CNVs), single nucleotide
`variants (SNVs), structural changes within single genes, and absence or loss of
`heterozygosity (AOH/LOH);
`the ability to analyze various tissue types such as: tumors, cell free DNA, bone
`marrow, fibroblasts, and saliva.
`the ability to integrate clinical data (e.g., family history, physical examination,
`results of any diagnostic testing) into an individualized interpretation of laboratory
`results;
`strong communication skills that facilitate discussion of laboratory results with
`referring providers, and that allow a team approach to guiding further testing and
`clinical management;
`the ability to communicate cytogenetic and molecular genetic laboratory results
`directly to patients, when necessary, and in conjunction with others members of
`the clinical team.
`
`Clinical Cytogenetics and Genomics
`
`*After July 1, 2017, no new trainees may begin training solely in Clinical
`Cytogenetics & Genomics or Clinical Molecular Genetics & Genomics. These
`specialties are now merged into Laboratory Genetics and Genomics.
`
`A diplomate certified in Clinical Cytogenetics and Genomics is an individual with a U.S.
`or Canadian earned doctoral degree (M.D., D.O., Ph.D.), or equivalent, who can
`correctly perform and interpret cytogenetic analyses relevant to the diagnosis and
`management of human genetic diseases, and who acts as a consultant regarding
`laboratory diagnosis for a broad range of cytogenetic disorders, including inherited and
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`acquired conditions.
`
`
`These requirements imply that the individual possesses:
`
`the ability to supervise and direct the operations of a clinical cytogenetic
`diagnostic laboratory, including technical expertise and knowledge in quality
`control and quality assessment procedures;
`broad knowledge in human cytogenetics, including prenatal and postnatal
`cytogenetic diagnosis, infertility, recurrent pregnancy loss, and of various cancers;
`an understanding of the heterogeneity, variability, and natural history of
`cytogenetic disorders; the analyses of various tissue types to diagnose and
`manage suspected or known diseases such as leukemias, lymphomas, and
`various solid tumors;
`diagnostic and interpretive skills in a wide range of cytogenetic and molecular
`cytogenetic and CGH microarray problems; and
`the ability to communicate cytogenetic laboratory results in the capacity of
`consultant to medical genetics professionals and other clinicians, and directly to
`patients in concert with other professional staff.
`
`Clinical Molecular Genetics and Genomics
`
`*After July 1, 2017, no new trainees may begin training solely in Clinical
`Cytogenetics & Genomics or Clinical Molecular Genetics & Genomics. These
`specialties are now merged into Laboratory Genetics and Genomics
`
`A diplomate certified in Clinical Molecular Genetics and Genomics is an individual with a
`U.S. or Canadian earned doctoral degree (M.D., D.O., Ph.D.), or equivalent*, who can
`correctly perform and interpret molecular analyses relevant to the diagnosis and
`management of human genetic diseases, and who can act as a consultant regarding
`laboratory diagnosis of a broad range of molecular genetic disorders.
`
`These requirements imply that the individual possesses:
`
`
`
`the ability to supervise and direct the operations of a clinical molecular genetics
`diagnostic laboratory, including technical experience and knowledge in quality
`control and quality assessment procedures;
`the ability to perform a variety of molecular diagnostic assays;
`an understanding of the heterogeneity, variability, and natural history of
`molecular genetic disorders;
`a broad knowledge of evolving technology including CGH microarray and next
`generation DNA sequencing, and their application to genomic medicine, (1) basic
`molecular biology and genetics, (2) the application of molecular genetic
`
`techniques to the diagnosis of genetic diseases, and (3) the etiology,
`pathogenesis, clinical manifestations, and management of human genetic
`disorders;
`diagnostic and interpretive skills in a wide range of clinical molecular genetics
`problems; and
`the ability to communicate molecular diagnostic laboratory results in the capacity
`of a consultant to medical genetics professionals and other clinicians, and directly
`to patients in concert with other professional staff.
`
`SUBSPECIALTIES OF GENETICS
`
`Medical Biochemical Genetics encompasses the evaluation, prevention, treatment,
`and discovery of diseases due to genetic defects in human biochemical processes. This
`area of genetics is recognized as a subspecialty by the American Board of Medical
`Specialties (ABMS) [www.abms.org]. Residency training programs in this subspecialty
`are accredited by the Accreditation Council of Graduate Medical Education (ACGME)
`[www.acgme.org], are one year in duration, and are available only to licensed
`physicians who are board-certified by the ABMGG as clinical geneticists. This
`subspecialty is also available as a two-year training program for licensed physicians
`certified by other appropriate ABMS member boards. Training in medical biochemical
`genetics focuses on the diagnosis and treatment of patients with metabolic disorders.
`Training does not include those skills and knowledge necessary to direct a clinical
`laboratory. A medical biochemical geneticist deals with the evaluation and treatment of
`patients with biochemical genetic disorders, defined as inborn errors of metabolism at
`any age of onset.
`
`
`Molecular Genetic Pathology focuses on diagnosing and confirming diagnoses of
`Mendelian genetic disorders, diseases of human development, infectious diseases, and
`malignancies, as well as assessing the natural history of those disorders. Molecular
`Genetic Pathology is recognized as a subspecialty by the American Board of Medical
`Specialties (ABMS) [www.abms.org]. Residency training programs in this subspecialty
`are accredited by the Accreditation Council of Graduate Medical Education (ACGME)
`[www.acgme.org], are one year in duration, and available only to licensed clinical
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`geneticists who are board certified by ABMGG or diplomates of the American Board of
`Pathology. These training programs instruct molecular genetic pathologists in the
`principles, theory, and technologies of molecular biology and molecular genetics. Upon
`graduation, molecular genetic pathologists can provide information about gene
`structure, function, and alteration, as well as apply laboratory techniques for diagnosis,
`treatment, and prognosis for individuals with related disorders.
`
`*NOTE TO GRADUATES OF NON-U.S., PUERTO RICO, OR CANADIAN ACADEMIC
`OR MEDICAL PROGRAMS:
`
`Individuals with a doctoral degree earned outside of the U.S., Canada or Puerto
`Rico are strongly urged to have their international credentials reviewed by the
`ABMGG Credentials Committee for equivalency of their doctoral degree prior to
`entering medical genetics and genomics training in an ABMGG-accredited
`fellowship or ACGME-accredited clinical genetics and genomics residency
`program. For more information, review the Foreign Medical Graduates Credentials
`Review page.
`
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