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1、Genetic Counseling,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 S

2、pecialist,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,Genetic Counseling,The prov

3、ision of information and assistance to affected individuals or family members at risk of a disorder that may be genetic,concerning the consequences of the disorder, the probability of developing or transmitting it,and the ways in which it may be prevent or ameliorated. The delivery of information ab

4、out genetic diseases(risks,natural history,and management) to patients and their families.,Goals of Genetic Counseling for Patients and Families,Comprehend complex information Participate in decision making Manage associated problems,Common indications for referral (I),Previous child with multiple c

5、ongenital anomalies, mental retardation or an isolated birth defect,such as neural tube defect, cleft lip and palate. Family history of a hereditary condition, such as cystic fibrosis, fragile X syndrome, or diabetes. Prenatal diagnosis for advanced maternal age or other indication.,Common indicatio

6、ns for referral (II),Consanguinity. Teratogen exposure, such as to occupational chemicals, medications, alcohol. Repeated pregnancy loss or infertility. Newly diagnosed abnormality or genetic condition.,Common indications for referral (III),Before undertaking genetic testing and after receiving resu

7、lts,particularly when testing for susceptibility to late-onset disorders,such as cancer or neurological disease. As follow-up for a positive newborn test,as with PKU, or a heterozygote screening test, such as Tay-Sachs,The Process of Genetic Counseling!,Obtain a history that includes family and ethn

8、ic information. Advise patients of the genetic risks to them and other family members. Offer genetic testing or prenatal diagnosis or PGD Outline the various treatment or management options for reducing the risk of disease.,Genetic Counseling Case Management,I. Collection of information Family histo

9、ry (questionnaire) Medical history Tests or additional assessments,Genetic Counseling Case Management,II. Assessment Physical examination Lab and radiological testing Validation or establishment of diagnosis if possible,Genetic Counseling Case Management,III. Counseling Nature and consequence of dis

10、order,Genetic Counseling Case Management,IV. Recurrence risk Availability of further or future testing,Genetic Counseling Case Management,V. Decision making Referral to other specialists, health agencies, support groups,Genetic Counseling Case Management,VI. Continuing clinical assessment,especially

11、 if no diagnosis,Genetic Counseling Case Management,VII. Psychosocial support,Population Risk,2-3% (3-5%) for Birth Defects and/or Mental Retardation 33% of all pediatric admissions are due to genetic causes,Factors Increasing Risk,Maternal Age Paternal Age Ethnicity Family history considerations,Fa

12、ctors Increasing Risk - 2,Exposures Abnormal first/second trimester screening tests Abnormal ultrasound,Cystic fibrosis : AR. ?s risk of being an affected =1/22 2/3 1/4 = 1/340.75%,Spina bifida : Polygenic. ?s risk of being an affected 4% Down syndrome: Chromosomal. ?s risk of being an affected 1%,H

13、emophilia A :XR.The most common severe inherited coagulation disorder caused by a deficiency of factor VIII.,Recurrence risk:The probability that a genetic disorder present in one or more members of a family will recur in another member of the same or a subsequent generation.,Bayesian analysis,A mathematical method widely used in genetic counseling to calculate recurrence risk. Posterior probability （后概率）= Joint probability（联合概率） / Joint probability Joint probability = Prior probability（前概