想從事基因檢測熱門行業么？----遺傳醫師、基因分析師等相關職業標準

04-03

一個讀者在專欄中請我介紹國外基因檢測、遺傳諮詢醫師相關職業標準，這肯定是很多讀者都關心的問題。今天以美國ABMGG為例，簡介一下吧。歐洲EMBG分類更加複雜，因為不同國家的政策有些微差異，但是總體來說還是與ABMGG大同小異的。

ABMGG全稱是American Board of Medical Genetics and Genomics，從名字就可以看出，這是個側重於臨床、醫生培養等的機構；而大家耳熟能詳的ACMG更加側重於診斷標準等的制定、推動研究等方面（以後有空了再介紹吧）。

ABMGG把職業分成4類：

1. Clinical Geneticist 遺傳醫師

遺傳醫師主要是面對病人，在門診接診病人，進行體檢、相關的臨床輔助檢查，進行診斷和鑒別診斷，並且決定下一步進行何種遺傳檢測。拿到遺傳檢測結果後，結合病人的病情為病人及家屬解讀遺傳報告，並且制定治療方案或者介紹患者去相關專科醫生那裡接受治療（這一項非常重要！因為現在很多罕見病研究都有飛速地進展，很多新葯新療法層出不窮）

2. Clinical Biochemical Geneticist 遺傳生化學家

3. Clinical Cytogeneticist 細胞遺傳學家

4. Clinical Molecular Geneticist 分子遺傳學家

這三項都是實驗室專家，具體分別側重於生化、細胞遺傳學、分子遺傳學方向。

MD可以成為以上1-4所有類別的專家，PhD只能選擇2-4類，當然啦，可以選擇成為2,3,4類的大通才。

非北美的畢業生需要首先申請Foreign Medical Graduates Credentials Check。通過了之後才能申請相關方向的證書。這個check我個人並沒有經歷過，未來也不打算去申請，如果有經歷過的同道，可以向大家介紹一下經驗：-）

希望這個簡單介紹，能夠解答大家心中的疑惑。

丁

英文原文也放在這裡，方便大家閱讀--

1. 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.

These requirements imply that the individual possesses:

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.

2. Clinical Biochemical Geneticist

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.

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;
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.

3. 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;
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.

4. 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.