Genetic Counselling (AQA A-Level Biology): Flashcards

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Genetic Counselling
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Definition of genetic counselling

Specialised support providing expert advice for informed decisions about offspring

Primary purpose of genetic counselling

Research family history & guide on disease probability in children

Heterozygous in genetic counselling context

Carrier status (carrying one copy of a gene)

Risk if both parents carry sickle-cell allele (affected child)

14\frac{1}{4} chance

Risk if both parents carry sickle-cell allele (carrier child)

24\frac{2}{4} chance

Types of consequences counsellors discuss

Emotional, psychological, medical, social, economic

Purpose of IVF with genetic screening

Option for high-risk couples to screen embryos

What oncogene mutations determine

Cancer type & guide drug/radiotherapy selection

What gene changes predict in cancer treatment

Which patients respond positively to specific treatments

Purpose of detecting single cancer cells

Identify patients at risk of leukaemia relapse

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