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Genetic counselling

Genetic counselling. 29/11/2011. Genetic counselling is about imparting information and advice Person seeking advice is called consultand History, examination and pedigree construction, diagnosis , counselling , follow up. History and examination.

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Genetic counselling

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  1. Genetic counselling 29/11/2011

  2. Genetic counselling is about imparting information and advice • Person seeking advice is called consultand • History, • examination and pedigree construction, • diagnosis, • counselling, • follow up

  3. History and examination • Medically oriented history and familial conditions • History taken from the person is called the proband • Examination height, arm span, upper and lower segment, weight, sitting height, intercanthal distance, head circumference, ear length, testicular volume, palate and lip abnormalities, incurving fifth digit, finger print abnormalities

  4. Types of genetic testing • Diagnostic testing • Predictive testing • Pharmacogenetic • Carrier • Prenatal • Preimplanatation genetic testing • Genetic screening

  5. Counselling • Relaxed atmosphere • Encompass clinical presentation, natural history, treatment, prognosis, risk of developing disease, future offspring-explain using simple language. • Misconceptions, other options eg in vitro, adoptions • Family genetic studies

  6. Geneticist referral • Clear family history of disease like Down’s , Cystic fibrosis • Ethnic groups • Strong family history for cancers and heart disease at an early age • Advice on antenatal screening eg muscular dystrophy, congenital heart disease • Where patients need to be aware about alternatives such asin vitro, egg or sperm donation

  7. Patients with genetic condition in family and want to know the risk to themselves or children • Parents of a child with difficulties which may be due to genetic condition • Person with known genetic condition wanting to know about the condition • Couple with abnormal results who want to know what result means and available options

  8. Diagnosis • Indications if two dysmorphic features for chromosomal abnormality: • Mental retardation • Structural abnormality • Still birth • Short stature • Infertility • Recurrent miscarriage • Ambiguous sexual development

  9. Post test counselling • Emotional impact • Implications on patients and near relatives • Strategy to inform relatives should be discussed

  10. Ethical and legal aspects • Congenital disabilities act 1976 • Legal duty of doctor to provide up to date information • Consangenious marriages are forbidden in first degree relatives eg siblings in UK law • Effort should be made to involve those who cannot give consent • In adult onset conditions, children only tested if treatment or surveillance will start in childhood • Disclosure to third parties • Written discussion of consultation • Leaflets, websites

  11. Counselling process • A challenge that is to be encouraged to clarify and find solutions • To make a reasonable important life decision or come to terms with, medical facts and consequences • Active listening • Reflection • Facts and accurate Information and education, avoid advice • How to react to emotions, painful/tender issues • Patients come to decisions themselves

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