Array testing/ethical issues/counselling issues Flashcards
Why might follow-up testing be required post-array? (4)
Complex array results- may need further testing to aid interpretation or shine more light on abnormality that has been found
Confirmation of the array result
To allow a recurrence risk for parents to be calculated
Carrier testing for other at-risk family members
Why is array first-line for learning disability? (3)
Looks at whole genome
Sensitive due to number of probes- particularly as in learning disability the abnormality is small and can’t be seen on karyotype
Do not need to “guess” chromosomal location based on symptoms and use a particular probe
What are karyotype and FISH used for?
Confirmation of an abnormal result
Ethical issues associated with patient consent (3)
Respect for patient autonomy- patient has right to make decision
Importance of adequate information supplied- informed consent
If individual is under 16 or incapable of giving consent, parent or responsible guardian can consent for them
Two of the main reasons why variants are sometimes classified as VOUS?
If the mutation is previously known, association with clinical features may be weak or the function of genes involved are unknown
How should patients be counselled regarding VOUS?
Informed during pre-test counselling that VOUS may be the outcome; also inform that variant may be re-classified in the future