Brenda Greyling Genetic Counsellor, MSc (Med) National Health Laboratory Service & WITS

Introduction Genetic conditions What is genetic counselling? Who should be referred? Cancer case examples

Genetic disorders common

Contribute significantly to morbidity and mortality 2-5% of infants have > 1 congenital anomaly 1-2% of infants have a chromosome abnormality/single gene disorder 5-10% of adult population have a genetic disorder

Genetic disorders complex

Team approach needed

TRAUMA
ENVIRONMENT

Spina bifida

BRCA, HNPCC

FAP
GENETIC

The process of helping people understand and adapt to the medical, psychological & familial implications of genetic contributions to disease. This process integrates: Interpretation of family & medical histories
to assess chance of disease occurrence/recurrence

MULTIFACTORIAL

Chromosomal disorders: Down syndrome Single-gene disorders: haemophilia, albinism, NFI Multifactorial disorders: cleft lip &/or palate

Education
inheritance, testing, management, prevention, resources & research

Counselling
to promote informed choices & adaptation to the risk or condition.
Task force report: JGC 2006

Empathy

Pregnant women:
Autonomy
advanced maternal age positive screening test teratogen-exposed abnormality on sonar abnormal result after prenatal testing

Support

ta to r

Respec t

Educate Empower

alize vidu Indi

Couples
family history of a known or suspected genetic disorder consanguineous

Dec isio ns

cate Advo Fa ci li

Crisis

Key:
Breast & Ovarian cancer Breast cancer Melanoma

Te am
Betty 25 years Anna 45 yrs Ca breast & ovary Heather Died 42 yrs Ca breast Beatrice 29 years

Individuals with:
genetic disorder (Waardenburg syndrome) birth defect (neural tube defect) chromosomal disorder (Turner syndrome) mental retardation or developmental delay dysmorphic features (Treacher Collins)

want testing or more information about genetic disorders common in their ethnic group had a previous child with chromosomal or genetic disorder, birth defect or mental retardation

Ashkenazi Jewish descent

Genetic counselling session I

High risk family Bettys chance for BrCa ~ 40-50% Genetic testing for BRCA genes
o o

Died 55 yrs Ca breast

Jacob 55 yrs

3 common muts in Ashkenazi Jews = 90% of families Need to test Anna 1st If mut found, then offer predictive testing to Betty
o o

If POS: high risk for BrCa (60-80%) & OvCa (20-60%) If NEG: pop risk BrCa

Joy Dx 24 yrs Melanoma

Management options for BRCA gene carriers

Follow-up
Anna attends GC & agrees to have testing Mutation found in Anna & then Betty

Key: Colon cancer

Maria Died 60 yrs

Genetic counselling session II (result)

4/12 after initial session Inform Betty that mut POS: breaking bad news Discuss implications & options Other at-risk relatives : sister
James 39 yrs Ben 42 yrs Adele 36 yrs Jack 40 yrs Abel Dx 45 yrs

Grace 7 yrs

Shadrack Dx 10 yrs

Richard 14 yrs

Simone Died 15 yrs

Esther 18 yrs

Genetic counselling session I

Disease features
o o o o

Genetic counselling session I

Risk assessment
o

Cancer predisposition, 100s1000s precancerous polyps develop AOO: avg 16 yrs (range: 7-36 yrs) By 35 yrs 95% have polyps Extracolonic cancers (small bowel, pancreas, thyroid, CNS, liver) Autosomal dominant APC gene Adele is obligate carrier of APC gene mutation

50% risk: Grace, Richard, Jack, Esther

Testing
o o

Genetic testing offered to at-risk individuals Children included

Genetics
o o o

Implications of having APC gene mutation PLAN: blood taken from Richard for predictive testing

Genetic counselling session II

Richard tested NEG for APC gene mut Not at risk for colon cancer NB: others still at risk Mutation carriers:
o o o

Donald Gordon Medical Centre Charlotte Maxeke Johannesburg Academic Hospital

Antenatal (157) & clinical (256) Specialist clinics (haemophilia, CF, craniofacial, neurogenetic, metabolic)

C-H Baragwanath Hospital Rahima Moosa Women and Child Hospital Outreach
East London Port Elizabeth Polokwane, Limpopo, Tzaneen

Colectomy Colonscopies from 10-12 yrs Other: liver u/s, AFP, thyroid

Division of Human Genetics The National Health Laboratory Service University of the Witwatersrand, School of Pathology

Tel : (011) 489-9224/3 Fax : (011) 489-9226 Human.Genetics@nhls.ac.za