Genetic dilemmas Flashcards

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1
Q

What is an ethical dilemma

A

a situation in which a difficult choice has to be made between two courses of action, either of which entails transgressing a moral principle

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2
Q

Huntington’s quick facts

A

Neuro-degernative
Autosomal dominant
Onset - adulthood
no treatment available

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3
Q

Gene testing of HD?

A

Implications of result being positive/ negative - predictive protocol
Insurances
Potential impact of testing on self, family and work

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4
Q

Prenatal diagnosis - what can you do ?

A

Chorionic villus sampling > 11 weeks
Amniocentesis > 15weeks - risk of miscarriage
consider wishes of couple on testing/ termination thoughts

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5
Q

Issues for the genetic counsellor?

A

Professional responsibilities to couple
Self awareness
Autonomy- trusting the patients to know what is right for them
Supporting couple in decision

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6
Q

Gene testing for breast cancer mutations

A

BRCA1 AND BRCA2 - now a lot more
Funded tests for those high risk
mammography
risk reducing surgery

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7
Q

Issues with family genetic testing ?

A

Secrecy within families, want to protect from difficult news

parents disagree as to what to share with their children

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8
Q

Impact on self? (4)

A

Will support many patients with ethical decisions over your career.
Maintain objective approach
Be self aware
Seek support/discuss cases with others

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9
Q

Genetic diagnosis impacts who?

A

patients, their families and the Genetic Counselling Staff involved

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10
Q

Future considerations?

A

Non invasive prenatal testing - tris 13,18 and 21 (NIPT)
Genomic era
Direct to consumer testing

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