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Lecture 7

Lecture 7 - Genetics and Health

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Health Sciences
Health Sciences 2000A/B
Leichelle Little

LECTURE 7: GENETICS AND HEALTH Genetic Counseling • Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease • Multifactorial = genes and environment • Genetic counselors 1. Interpretation of family and medical history to assess the chance of disease occurrence or recurrence. 2. Education about inheritance, testing, management, prevention, resources and re- search. 3. Counselling to promote informed choices and adaptation to the risk or condition. • Overall goal: o Genetic Counsellors and Genetic professionals (researchers, physicians, etc.) use the powerful tools of human genetics and genomics to improve human health and quality of life. o Dealing with genetic contributions to health conditions such as psychiatric disorders, intellectual and behavioural disabilities, cancers, birth defects and single gene disorders Genetic Testing • Past o Eugenics and family history o Traits passed on from generation to generation o Able to look at family history and guesstimate risks based on empiric evidence only  Unsure of genetic basis but definite patterns were present  Rate of condition higher than that of what is seen in population o Additional (non-medical) information gained through family history  May reveal social relationships of the client to his or her family members • Information about adoption, divorce, separation • Extent of the emotional and social impact of a disorder for a family • Myths developed by family members (explaining who in the family is at risk and why) • Is a critical mechanism for establishing a productive relationship with the patient and client o Example: Family history of MR  Phenotype: the traits we can observe, are a result of genetics and/or environmental factors  Siblings have: mental retardation, behavioral or social problems, seizures, hyperactivity, stunted growth, skin rashes (eczema) o Eugenics  Originally developed by Francis Galton (1860s-70s)  Advocating the improvement of human genetic traits  Positive Eugenics: promote higher reproduction of people with desired traits  Negative Eugenics: reduced reproduction of people with less-desired or undesired traits through involuntary sterilization, institutionalization or preventing intermarriage • Deafness as an example • Among those characteristics targeted for elimination from the human population were such complex and subjectively defined traits as o Intelligence o Criminality o Bipolar disorder o Alcoholism o “Feeblemindedness”- a term describing varying degrees of mental retardation and learning disabilities • Present o Identification of genetic disorder – PGD, pre-natal, NBS, adult o Example: PKU (Phenylketonuria)  Karla and Simon had a child who was identified to have PKU through newborn screening. They are interested in having another child but would like to know their risks, as well as options for screening/testing  1/12000 babies in Ontario  Treatment: Phenylketonuria free diet • Low phenylalanine diet, working closely with dietician • However, phenylalanine is an essential amino acid and cannot be synthesized by humans o Post-natal: screening for genetic disease  Newborn screening sample obtained at birthing center  Sample is sent to laboratory for NBS analysis • Negative result = no further follow-up is required • Positive result = further follow-up testing is required o Follow-up testing is normal – baby is not at increased risk to have an inherited metabolic disease o Follow-up testing reveals that bab
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