Genetic Predisposition to adult onset disordres Flashcards

1
Q

It’s easier to estimate a person’s risk of developing a genetic disorder if it’s based on a single gene and has high penetrance. What are the problems with multifactorial conditions?

A

Polygenic genetic component means:

  • Can’t identify all the risk alleles
  • Predictive value of each is small

Interacts with environmental factors so even with genetic testing uncertainty is high

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2
Q

Should children be tested for uncertain genetic disorders?

A

Only if there are potential medical benefits of testing them (in childhood, if they might as well be tested as adults then wait)

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3
Q

Do 3rd parties have access to genetic test results?

A

No! Insurers and employers etc shouldn’t have access to such results

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4
Q

What are the guidelines on predictive testing for multifactorial genetic disorders?

A

1) Test info must be usuable for prevention/treatment
2) Adequate info about uncertainty
3) Proper counselling must be provided re risk, implications and coping with any fear/anxiety

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5
Q

Why might we not want to do predictive testing on a patient?

A

+ve results even with uncertainty:

  • Remove hope
  • Impacts relationships
  • Potential insurance/employment problems
  • Stress/anxiety
  • ve results:
  • survivor guilt (E.g. if sibling tests +Ve)
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