Array testing/ethical issues/counselling issues

Question 1

Why might follow-up testing be required post-array? (4)

Answer 1

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

Question 2

Why is array first-line for learning disability? (3)

Answer 2

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

Question 3

What are karyotype and FISH used for?

Answer 3

Confirmation of an abnormal result

Question 4

Ethical issues associated with patient consent (3)

Answer 4

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

Question 5

Two of the main reasons why variants are sometimes classified as VOUS?

Answer 5

If the mutation is previously known, association with clinical features may be weak or the function of genes involved are unknown

Question 6

How should patients be counselled regarding VOUS?

Answer 6

Informed during pre-test counselling that VOUS may be the outcome; also inform that variant may be re-classified in the future