浙江大学医学院：遗传咨询（PPT讲稿）

指x旁学命 遗传咨询 ZHANG Xian-Ning, PhD E-mail: zhangxianninglazju educn Tel:13105819271:88208367 Office: A705, Research Building 2013/09

遗传咨询 ZHANG Xian-Ning, PhD E-mail: zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2013/09

Genetic Counseling The American Board of Genetic Counseling was established in the early 1990s, and now various types of geneticists, including genetic counselors, medical geneticists, and basic human geneticists. can be certified

Genetic Counseling The American Board of Genetic Counseling was established in the early 1990s, and now various types of geneticists, including genetic counselors, medical geneticists, and basic human geneticists, can be certified

Genetic Counseling(ASHG, 1975) GC is a communication process that deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1)comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management;(2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives; 3) understand the alternatives for dealing with the risk of recurrence;(4) choose a course of action that seems to them appropriate in their view of their risk, their family goals, and their ethical and religious standards, and act in accordance with that decision; and (5)make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

Genetic Counseling (ASHG, 1975) “GC is a communication process that deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; (2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives; (3) understand the alternatives for dealing with the risk of recurrence; (4) choose a course of action that seems to them appropriate in their view of their risk, their family goals, and their ethical and religious standards, and act in accordance with that decision; and (5) make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

Genetic Counseling(NSGC, 2006) GC is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions of disease. The process integrates the following: (1) interpretation of family and medical histories to assess the chance of disease occurrence or recurrence;(2)education about inheritance, testing, management, prevention, resources, and research; and 3) counseling to promote informed choices and adaptation to the risk of the condition

Genetic Counseling (NSGC, 2006) “GC is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions of disease. The process integrates the following: (1) interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; (2) education about inheritance, testing, management, prevention, resources, and research; and (3) counseling to promote informed choices and adaptation to the risk of the condition

The medical genetics Team Masters level genetic counselor MD Geneticist Laboratory support: Molecular genetics Biochemical genetics Cytogenetics Ancillary personnel: Nurse, social Worker, dietician Surgeons, Dentists Psychiatrists, Neurologists, Oncologists, Pathologists Physical Therapist, Developmental Specialist

• Master’s level genetic counselor • MD Geneticist • Laboratory support: – Molecular Genetics – Biochemical Genetics – Cytogenetics • Ancillary Personnel: – Nurse, Social Worker, Dietician – Surgeons, Dentists – Psychiatrists, Neurologists, Oncologists, Pathologists – Physical Therapist, Developmental Specialist The Medical Genetics Team

What makes genetics evaluation Different? Comprehensive approach to medical problem Defining etiology Discuss implication of diagnosis Discuss implication for family members Giving bad news Combining diagnostic evaluation and counseling

What Makes Genetics Evaluation Different? • Comprehensive approach to medical problem • Defining Etiology • Discuss implication of diagnosis • Discuss implication for family members • Giving bad news • Combining diagnostic evaluation and counseling

Common indications for referral () 1. Previous child with multiple congenital anomalies. mental retardation or an isolated birth defect. such as neural tube defect, cleft lip and palate. 2. Family history of a hereditary condition such as cystic fibrosis, fragile x syndrome, or diabetes 3. Prenatal diagnosis for advanced maternal age or other indication

Common indications for referral (I) 1. Previous child with multiple congenital anomalies, mental retardation or an isolated birth defect, such as neural tube defect, cleft lip and palate. 2. Family history of a hereditary condition, such as cystic fibrosis, fragile X syndrome, or diabetes. 3. Prenatal diagnosis for advanced maternal age or other indication

Common indications for referral (d) 4. Consanguinity 5. Teratogen exposure, such as to occupational chemicals, medications, alcohol 6. Repeated pregnancy loss or infertility. 7. Newly diagnosed abnormality or genetic condition

Common indications for referral (II) 4. Consanguinity. 5. Teratogen exposure, such as to occupational chemicals, medications, alcohol. 6. Repeated pregnancy loss or infertility. 7. Newly diagnosed abnormality or genetic condition

Common indications for referral (lID 8. Before undertaking genetic testing and after receiving results, particularly when testing for susceptibility to late-onset disorders, such as cancer or neurological disease 9. As follow-up for a positive newborn test as with PKU, or a heterozygote screening test, such as Tay-sachs

Common indications for referral (III) 8. Before undertaking genetic testing and after receiving results,particularly when testing for susceptibility to late-onset disorders, such as cancer or neurological disease. 9. As follow-up for a positive newborn test, as with PKU, or a heterozygote screening test, such as Tay-Sachs

GC Case Management I. Collection of information Family history (questionnaire) Medical history Tests or additional assessments

GC Case Management I. Collection of information Family history (questionnaire) Medical history Tests or additional assessments