Genetic Counselling

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 childrens 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 (lt20 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 (OConnor, 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. 0.5-1)

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 mothers 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 mothers arm to
  measure the amounts of special substances found
  in every pregnant womans 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 babys 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

19
http//www.signaturegenomics.com/prenatal_microarr
ay_services.html
http//thoroughgen.com/about-us.html
https//www.23andme.com/ http//www.illumina.com/
products/human_omni_express_beadchip_kits.ilmn ht
tps//www.youtube.com/watch?vlVG04dAAyvY
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, 000 - 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 6-9 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, 000 - 500,000

27
23 and the RCMP

• http//www.rcmp-grc.gc.ca/nddb-bndg/index-accueil-
  eng.htm