2 What is Genetic Counselling? Education and guidance offered by professional advisors in order to help people make informed decisions based on genetic knowledge.Providing information about genetic conditions with counselling support so that individuals can make personal decisions about the management of their health, their children’s health, or their pregnancies.
3 What is Genetic Counselling? Cont. Advisors help the person understand the meaning of specific information in their genes.
4 What is Genetic Counselling? Cont. Genetic Counselling may be helpful to people interested in knowing more about:The chances of having or developing an inherited conditionA family history of cancerA family history of a condition that might be inheritedThe chances of having a child with an inherited conditionPrenatal testing for high risk pregnancies
5 What is a Genetic Counsellor? Health care professionals with specialized training & experience in the areas of medical genetics and counselling.Provide individuals/families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.
6 What do Genetic Counsellors do? Identify individuals and/or families who may have, or be at risk for, a genetic conditionInvestigate the problem present in the familyInterpret information about the disorderAnalyze inheritance patterns and risks of occurrence and recurrenceReview available options with the individual/family in a manner that promotes informed choice
7 What do Genetic Counsellors do? Cont. Serve as patient advocates & refer individuals/families to available support servicesServe as educators/resources to other healthcare professionals & the general publicCombine aspects of social worker/counsellor & medical professional
8 Types of Genetic Tests Tests based on DNA, RNA, chromosomes, protein Testing parents for carrier statusPrenatal testingNeonatal testingTesting in childrenPresymptomatic screening for late-onset diseasePresymptomatic screening for complex disease susceptibility
9 Testing Parents for Carrier Status Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.Offered to individuals who have a family history of a genetic disorder & to people in ethnic groups with an increased risk of specific genetic conditions.If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition.
10 Testing Parents for Carrier Status Tests on parents can be performed on a sample of blood, hair, skin, amniotic fluid or other tissue. Sample is analyzed for abnormalities in chromosomes, DNA, or proteinsFamily trees (pedigree) often composed to trace the spread and hereditability of gene/disease
11 Testing Parents for Carrier Status Pedigree Analysis:Pedigree diagram is used to represent/map out genetic relationshipsUsed to determine the mode of inheritance (autosomal dominant, autosomal recessive, X-linked recessive) of genetic disorders
12 Prenatal ScreeningPrenatal screening tests are used to check the health of a developing baby.Tests usually done early in pregnancy (<20 wk)A screening test does not tell for sure that the developing baby has a certain problem, but it does tell if it is more likely and if further testing is necessary.
13 Most Common Types of Prenatal Genetic Tests AmniocentesisThe most common prenatal test performed today (Morris, 1993)Estimated fetal loss - 0.5% (O’Connor, 1989)Diagnostic test that involves examining cells shed naturally from the fetus into the amniotic fluidCan indicate chromosomal disorders like Down syndrome, genetic disorders like Cystic fibrosis, and neural tube defects like spina bifidaUsually for women 35+ or if questionable results from ultrasound
14 Most Common Types of Prenatal Genetic Tests Chorionic Villi SamplingCan be performed at a much earlier age of the fetus development compared to an amniocentesis test (as early as 8 weeks)Fetus is located through ultrasound; needle passed through the abdomen and fragment of chorionic villi (finger-like projections from the placenta) are extracted which carry identical genetic informationRisk of having a miscarriage is slightly higher than amnio. (approx %)
15 Most Common Types of Prenatal Genetic Tests Alpha-fetal protein Sampling (AFP)A blood test from the mother that determines the variation of high and low concentrations of alpha-fetoprotein in the mother’s blood that can indicate a risk of fetal genetic abnormalitiesMeasured middle of the second trimester (14-16 weeks)Elevated levels may be caused by neural tube defects including spina bifida, anencephaly, and abdominal wall defectsAbnormally low levels in Down syndrome and trisomy 18High false positive rateTumour marker
16 Other types of Prenatal Screening Maternal Serum Screen (MSS)Uses a blood sample from the mother’s arm to measure the amounts of special substances found in every pregnant woman’s blood
17 Neonatal TestingNewborn screening – process of testing newborn babies for treatable genetic, endocrinologic, metabolic, and hematologic diseases.Ex. Phenylketonuria (PKU) screenObtaining blood sample from newborn baby’s heel to screen for PKUAutosomal recessive disorder characterized by deficiency in hepatic phenylalanine hydroxylase necessary to metabolize phenylalanine (Phe) and tyrosine (Tyr)PAH deficiency causes accumulation of Phe which can be detected in urineLeft untreated, condition can cause problems with brain development, leading to mental retardation, brain damage and seizuresEasily controlled by low Phe diet; Damage is irreversible, hence early detection is crucial
18 Testing in ChildrenIf a child does not reach specific milestones (ex. Sit independently by 4-7 months, reach and grasp objects by 3 months, double birth weight by 4 months...) there may be cause for concern and health care professional may direct family to specialist/genetic counsellor
20 Genetic Counselling as a Career Genetic counsellors complete a Master of Science degree in genetic counselling from a recognized university program.Typical educational backgrounds include: biology, nursing, social work, psychology...Training consists of course work in genetics & counselling theory, as well as clinical rotations within genetics departments.In Canada, most genetic counsellors are certified by the Canadian Association of Genetic Counsellors.
21 Schools/Programs in Canada UBC, U of T, McGillGenetic Counselling (M.Sc.)LENGTH OF PROGRAM2 yearsNUMBER OF STUDENTS ACCEPTED EACH YEARApprox. 6-10TUITIONApprox. $30,000INCOME$60, $100,000 depending on location
22 Schools/Programs in Canada The Michener Institute (Toronto)Genetics Technologist (Diploma)Processing specimens for genetic analysisAnalyze chromosomes, DNA and RNA for genetic abnormalities and help diagnose, treat and monitor disease.REQUIREMENTS:Bachelor of Science degree with two or more university-level genetics courses (either in Human Genetics or Molecular Genetics).NUMBER OF STUDENTS ACCEPTED / APPLYING EACH YEAR:16 out of 50 interviewsLENGTH OF PROGRAM:16 months$8,500INCOME:$65,000 per year, depending on location.
23 Schools/Programs in Canada BCIT (Vancouver)British Columbia Institute of TechnologyGenetics Technologist (Diploma) Genetics Technologist (Diploma)Processing specimens for genetic analysisAnalyze chromosomes, DNA and RNA for genetic abnormalities and help diagnose, treat and monitor disease.REQUIREMENTS:Bachelor of Science degree with two or more university-level genetics courses (either in Human Genetics or Molecular Genetics) with a minimum grade of 60%.LENGTH OF PROGRAM:16 monthsTUITION:$8, 500INCOME:$65,000 per year, depending on location.
24 Other Career Options Medical Geneticist (MD) Clinical/academic geneticist. Oversees patient diagnosis, treatment & referral. Often leads a multidisciplinary team. An experienced MD with specialization in clinical genetics.LENGTH OF PRORGRAM4 year MD years specialty & subspecialty
25 Other Career Options Graduate School (PhD) Geneticist/molecular biologist.Wide field of study, from basic cellular and molecular biology, to searching for diseased genes, to tracking spread of disease.LENGTH OF PROGRAM4-6 yearsINCOMEPharma. Industry: $100, 000+Academia: ???
26 Other Career Options Intellectual Property Law MSc/LLB/LLM/Patent AgentScientific background (BSc/MSc) with a law degree and specializationLENGTH OF PROGRAM3 Years (Law School)INCOMEPharma. Industry: $100, 000+Private firm: $80, $500,000+