Specialties of Genetics | ABMGG
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`ABMGG > Training & Certification > Specialties of Genetics
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`pecialties of Genetics
`Revised 11/18/14
`
`To be an active candidate for certification by the ABMGG, an individual must meet the
`criteria in the area of desired certification and provide the required supporting
`documentation. Certification is offered in Clinical Genetics and Genomics, Clinical
`Biochemical Genetics, Clinical Cytogenetics and Genomics, and Clinical Molecular
`Genetics and Genomics.
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`Clinical Geneticist
`
`A clinical geneticist is an individual who holds a U.S. or Canadian earned or the
`equivalent of an earned M.D. or D.O. degree, has had 1 year in an ACGME-accredited
`primary care residency (pediatrics, internal medicine, obstetrics and gynecology, and/or
`family medicine) and 2 years in an ACGME-accredited residency in clinical genetics
`categorical residency or completion of a 4-year combined residency training program
`(Pediatrics/Genetics, Internal Medicine/Genetics or Maternal-Fetal Medicine/Genetics), a
`valid and unrestricted medical license, and demonstrates competence to provide
`comprehensive genetic diagnostic, management, therapeutic, and counseling services.
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`Training & Certification
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`Specialties of Genetics
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`These requirements imply that the individual possesses:
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`broad knowledge in human and medical genetics, 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 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.
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`Clinical Biochemical Geneticist
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`A clinical biochemical geneticist is an individual with a U.S. or Canadian earned or the
`equivalent of an earned doctoral degree (M.D., D.O., Ph.D.) who can correctly perform
`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.
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`These requirements imply that the individual possesses:
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`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;
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`Specialties of Genetics | ABMGG
`
`http://abmgg.org/pages/training_specialties.shtml
`
`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 Geneticist/Genomicist (check out the Laboratory Genetics and Genomics
`FAQs)
`
`A laboratory geneticist is an individual with a U.S. or Canadian earned doctoral degree
`(M.D., D.O., Ph.D.), or equivalent, who is certified by the ABMGG and 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.
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`These requirements imply that the individual must possess:
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`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 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.
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`Clinical Cytogeneticist
`
`A clinical cytogeneticist is an individual with a U.S. or Canadian earned or the equivalent
`of an earned doctoral degree (M.D., D.O., Ph.D.) 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 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;
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`Specialties of Genetics | ABMGG
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`http://abmgg.org/pages/training_specialties.shtml
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`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 Geneticist
`
`A clinical molecular geneticist is an individual with a U.S. or Canadian earned or the
`equivalent of an earned doctoral degree (M.D., D.O., Ph.D.) 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
`generaltion 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.
`
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