1. Genetic Counselling & Genetic Testing

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 condition
A family history of cancer
A family history of a condition that might be inherited
The chances of having a child with an inherited condition
Prenatal 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 condition
Investigate the problem present in the family
Interpret information about the disorder
Analyze inheritance patterns and risks of occurrence and recurrence
Review 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 services
Serve as educators/resources to other healthcare professionals & the general public
Combine aspects of social worker/counsellor & medical professional

8. Types of Genetic Tests Tests based on DNA, RNA, chromosomes, protein
Testing parents for carrier status
Prenatal testing
Neonatal testing
Testing in children
Presymptomatic screening for late-onset disease
Presymptomatic 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 proteins
Family 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 relationships
Used to determine the mode of inheritance (autosomal dominant, autosomal recessive, X-linked recessive) of genetic disorders

12. Prenatal Screening
Prenatal 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
Amniocentesis
The 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 fluid
Can indicate chromosomal disorders like Down syndrome, genetic disorders like Cystic fibrosis, and neural tube defects like spina bifida
Usually for women 35+ or if questionable results from ultrasound

14. Most Common Types of Prenatal Genetic Tests
Chorionic Villi Sampling
Can 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 information
Risk 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 abnormalities
Measured middle of the second trimester (14-16 weeks)
Elevated levels may be caused by neural tube defects including spina bifida, anencephaly, and abdominal wall defects
Abnormally low levels in Down syndrome and trisomy 18
High false positive rate
Tumour 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 Testing
Newborn screening – process of testing newborn babies for treatable genetic, endocrinologic, metabolic, and hematologic diseases.
Ex. Phenylketonuria (PKU) screen
Obtaining blood sample from newborn baby’s heel to screen for PKU
Autosomal 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 urine
Left untreated, condition can cause problems with brain development, leading to mental retardation, brain damage and seizures
Easily controlled by low Phe diet; Damage is irreversible, hence early detection is crucial

18. Testing in Children
If 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, McGill
Genetic Counselling (M.Sc.)
LENGTH OF PROGRAM
2 years
NUMBER OF STUDENTS ACCEPTED EACH YEAR
Approx. 6-10
TUITION
Approx. $30,000
INCOME
$60, $100,000 depending on location

22. Schools/Programs in Canada
The Michener Institute (Toronto)
Genetics Technologist (Diploma)
Processing specimens for genetic analysis
Analyze 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 interviews
LENGTH OF PROGRAM:
16 months
$8,500
INCOME:
$65,000 per year, depending on location.

23. Schools/Programs in Canada
BCIT (Vancouver)
British Columbia Institute of Technology
Genetics Technologist (Diploma) Genetics Technologist (Diploma)
Processing specimens for genetic analysis
Analyze 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 months
TUITION:
$8, 500
INCOME:
$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 PRORGRAM
4 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 PROGRAM
4-6 years
INCOME
Pharma. Industry: $100, 000+
Academia: ???

26. Other Career Options Intellectual Property Law
MSc/LLB/LLM/Patent Agent
Scientific background (BSc/MSc) with a law degree and specialization
LENGTH OF PROGRAM
3 Years (Law School)
INCOME
Pharma. Industry: $100, 000+
Private firm: $80, $500,000+

27. 23 and the RCMP