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Cardiac Genetics - class IV variants
1.
What is your occupation?
Consultant Clinical Geneticist
Genetic Counsellor
Trainee in Clinical Genetics
Clinical Scientist
Cardiologist
2.
In which hospital do you work?
3.
Please estimate what number of cardiac genetics patients are seen by your service each year
4.
Is NGS-based inherited cardiac gene testing performed in the laboratory in your Genetics Centre?
Yes
No
5.
If you do not perform NGS in house for this purpose, to which laboratory do you send your tests?
6.
Do you have a sub-specialty interest in cardiac genetics or are you contracted to provide dedicated hours to cardiac genetics?
yes
no
7.
Is there a consultant Clinical geneticist within your unit who is sub-specialised in cardiac genetics?
Yes
No
I don't know
8.
Do you routinely discuss test results with a clinical cardiology team in a multidisciplinary meeting?
yes
no
I don't know
9.
Considering DNA sequence variants classified as outlined here below:
Class 1 = Benign
Class 2 = Likely benign
Class 3 = Variant of unknown significance,
Class 4 = Likely pathogenic,
Class 5 = Pathogenic
please select a response to the following questions:
Yes
No
Only to
AFFECTED
individuals for segregation analysis
Do you offer cascade testing to family members of a proband in whom a
class 5
variant is identified?
Yes
No
Only to
AFFECTED
individuals for segregation analysis
Do you offer cascade testing to family members of a proband in whom a
class 4
variant is identified?
Yes
No
Only to
AFFECTED
individuals for segregation analysis
Do you offer cascade testing to family members of a proband in whom a
class 3
variant is identified?
Yes
No
Only to
AFFECTED
individuals for segregation analysis
10.
Considering pre-test counselling for cascade testing of
CLASS 4
variants,
Yes
No
I don't know/not sure
Not applicable, we never offer cascade testing for class 4 variants
Yes
No
I don't know/not sure
Do you explain that there may be a degree of uncertainty about the pathogenicity of a
class 4
variant?
Yes
No
I don't know/not sure
Do you mention the possibility of the pathogenicity classification changing as new evidence emerges in the future?
Yes
No
I don't know/not sure
11.
How often, in your opinion, should routine variant reclassification be performed? Please select one option
I do not think variant reclassification should be actively undertaken at all
Every 6 months
Annually
Every three years
Every five years
12.
In an asymptomatic individual that has NORMAL predictive testing for a familial Class 4 variant, please answer the following:
Yes
No
n/a - I would leave this decision to their cardiologist
Are you totally reassuring that they have no risk of developing the familial phenotype?
Yes
No
n/a - I would leave this decision to their cardiologist
If they have not seen a cardiologist, do you refer them for assessment?
Yes
No
n/a - I would leave this decision to their cardiologist
If they have seen a cardiologist and have no clinical signs, do you recommend discharge from follow-up?
Yes
No
n/a - I would leave this decision to their cardiologist
Do you discuss their result at MDT meeting prior to making these clinical decisions?
Yes
No
n/a - I would leave this decision to their cardiologist
13.
Do you have any other concerns regarding the use of NGS for investigation of inherited cardiac pathology? If so, please list here below (optional)
14.
Which of the following situtations should trigger variant reclassification? Please select all that apply
Variant reclassification should be routinely performed as standard practice
An individual in a family receives a new diagnosis
New conflicting information regarding the familial phenotype comes to light
New data is generated regarding the variant from population databases (e.g. ExAC, gnomAD)
New literature is published regarding the variant
Variant reclassification is mandated by the governing professional body (e.g. AGCS)