UNIT 3 – Workpackage 3.4
- DEFINITIONS OF GENETIC TESTING -
QUESTIONAIRE
TO EUROGENTEST PARTICIPANTS AND EXPERTS
One of EuroGentest WP 3.4 aims is to discuss if a “consensus definition of Genetic Testing that might be globally applicable”, according to the EC expert group “25 Recommendations” (2004), is possible to achieve, or what alternatives are there to be sure that we understand each other whenever speaking of genetic testing.
This questionnaire intends to survey the opinion of all EuroGentest partners, experts and advisory board. It consists of 2 pages only, with 5 questions and a free comments space. It should not take longer than 10 minutes or so to fill.
We hope it will help us achieving the aim described above, as well as producing (a) working definition(s) of genetic testing for EuroGentest and its several units.
We thank you for your time, in anticipation for your answers and comments.
Jorge Sequeiros and Bárbara Guimarães
UNIT 3 – Workpackage 3.4
DEFINITIONS OF GENETIC TESTING
- QUESTIONAIRE -
1. It is necessary to get “a consensus definition on genetic testing that might be globally applicable”
Completely Fully
disagree agree
1 2 3 4 5 6
2. It is possible to get “a consensus definition on genetic testing that might be globally applicable”
Completely Fully
disagree agree
1 2 3 4 5 6
3. Definitions of genetic testing should be context-dependent (e.g., for quality assurance, ethical issues, insurance or health costs reimbursement, etc.)
Completely Fully
disagree agree
1 2 3 4 5 6
4. Do you think that a definition of genetic testing should be (tick ONLY ONE):
reserved for DNA-based tests
reserved for tests at the level of genetic material (DNA and chromosomes)
DNA, chromosomes and biochemical testing
applied to any source that can provide unambiguous or high predictive value genetic information, thus covering some instances of ‘non-classical’ genetic testing, as well as physical exam and family history (e.g., ultrasounds in polycystic kidney disease, ECG in prolonged QT syndrome, EMG in CMT1, blood smear in sickle cell anaemia or spherocytosis, eye exam in bilateral retinoblastoma)
other (please specify)
5. What do you expect a definition of genetic testing to cover (tick all that apply)?
Context
Medical applications ……………………….
Scientific research………………………….
Non-Medical applications ………………….
Type of testing
Diagnostic testing …………………………..
Presymptomatic testing …………………....
Disease predisposition testing…………….. (continues)
Drug response ………………………………
Carrier testing ……………………………….
Prenatal testing ……………………………..
PGD ………………………………………….
Population screening ……………………….
Paternity testing …………………………….
Criminal identification ………………………
Phenotypes
Mendelian diseases …………………………
Genetic predispositions ……………………
Other polymorphic traits ……………………
Mutations
Somatic mutations ………………………….
(vs. germinal only)
Object
Chromosomes/Karyotype ………………….
Genes/DNA ………………………………….
Specific gene products …………………….
Clinical blood tests …………………………
Imaging/physiologic tests …………………
Physical exam ………………………………
Family history ……………………………….
6. Remarks/Comments:
Name:
EuroGentest Partner #: Unit
Profession/background:
Age: Gender: female male
Institution:
Country:
Email contact:
Date: / / 2007
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