Condition category
Date applied
Date assigned
Last edited
Prospectively registered
Overall trial status
Recruitment status
No longer recruiting

Contact information



Primary contact

Prof Ian Jacobs


Contact details

Gynaecological Cancer Research Centre
EGA Institute for Women’s Health
University College London
First Floor
Maple House
149 Tottenham Court Road
United Kingdom

Additional identifiers

EudraCT number number

Protocol/serial number


Study information

Scientific title

Genetic Cancer Prediction through Population Screening



Study hypothesis

1. Systematic population testing detects more mutations than testing on the basis of family history alone
2. There is no increase in psychological morbidity with systematic population testing compared to genetic testing based on family history

Ethics approval

Great Ormond Street Hospital and Institute for Child Health Research Ethics Committee, 09/06/2008, ref: 08/H0713/44

Study design

Randomised controlled trial

Primary study design


Secondary study design

Randomised controlled trial

Trial setting


Trial type


Patient information sheet

Patient information can be found at:


Genetic testing for BRCA founder mutations


10,000 volunteers will be recruited in total; this number includes a pilot phase of 1,000 volunteers in the first year.

This is a randomised controlled trial comparing a systematic population based approach to genetic testing for germ-line cancer predisposition to the current approach based on family history. Interventions include the following:
1. Genetic counselling: All volunteers will receive pre-test education and counselling prior to decision making regarding testing.
2. Genetic testing: Genetic analysis for the 3 Jewish FM: 185 delAG, 5382 insC (in BRCA1) and 6174 delT (in BRCA2) will be performed on peripheral blood samples obtained in those individuals who consent to testing following counselling. All individuals in the systematic screening group and those individuals who have a positive family history of cancer in the family history group will undergo testing.
3. Questionnaires used include:
3.1. Baseline questionnaire (collected before counselling)
3.2. Post-counselling assessment questionnaire (after counselling, at decision making)
3.3. Exit questionnaire (for those declining testing after counselling)
3.4. Follow-up Questionnaire-1 (day 7 and 3 months after receiving test result)
3.5. Follow-up Questionnaire-2 (1 year after receiving test result)
3.6. Follow-up Questionnaire-3 (2 and 3 years after receiving test result)

Intervention type



Not Specified

Drug names

Primary outcome measure

1. Number of founder mutations (FM) detected, assessed by the genetic test result
2. Acceptability
2.1. Perception, attitudes towards BRCA1/2 testing: benefits, risks, limitations; cultural/religious influences; interest and intention, assessed by the baseline questionnaire and post-counselling assessment questionnaire
2.2. Satisfaction with counselling: Genetic Counselling Satisfaction Scale (GCSS), assessed as part of post-counselling assessment questionnaire and exit questionnaire (for those declining testing after counselling)
2.3. Uptake of testing
2.4. Reasons for declining testing, assessed by the exit questionnaire (for those declining testing after counselling)
3. Psychological impact, assessed by the baseline questionnaire, Follow-up Questionnaires 1, 2 and 3. These included the following:
3.1. Hospital Anxiety and Depression Scale (HADS): General well being, depression and anxiety
3.2. Short Form 12 (SF12): Psychological Quality of life (QoL) tool
3.3. Health Anxiety Inventory (HAI)
3.4. Multidimensional Impact of Cancer Risk Assessment (MICRA). This measure is used in Follow-up Questionnaires 1, 2 and 3 to assess the impact of test result
4. Uptake of screening and preventive strategies. Behavioural outcomes assessed by the baseline questionnaire, Follow-up Questionnaires 2 and 3. They included the following assessments:
4.1. Lifestyle behaviours (diet, exercise, alcohol, vitamins, etc.)
4.2. Cancer screening behaviours
4.3. Prophylactic surgery and chemoprevention
5. Health economics will be assessed by the baseline questionnaire, Follow-up Questionnaires 1, 2 and 3. This will involve within trial analysis of the counselling, screening and preventive strategies undertaken as well as modelling to estimate resource impact based on standard practise.
5.1. Quality adjusted life years (QALYs)
5.2. Cost-effectiveness, cost per case detected
6. The following will also be recorded:
6.1. Socio-demographics, identity scale and women's health by the baseline questionnaire
6.2. Knowledge assessment by the baseline questionnaire, post-counselling assessment questionnaire, and exit questionnaire (for those declining testing after counselling)
6.3. Perceived risk, assessed by the baseline questionnaire, post-counselling assessment questionnaire, Follow-up Questionnaires 1, 2 and 3
6.4. Fertility intention, assessed by the baseline questionnaire, Follow-up Questionnaire-2
6.5. Impact of result on fertility intention, assessed by the Follow-up Questionnaires 1 and 2

See Interventions for timepoints at which the questionnaires will be carried out.

Secondary outcome measures

No secondary outcome measures

Overall trial start date


Overall trial end date


Reason abandoned (if study stopped)


Participant inclusion criteria

This is a healthy volunteer trial for Ashkenazi Jewish men and women. Inclusion criteria include:
1. Individuals over 18 years
2. Ashkenazi Jewish ethnicity (based on self-reported history of 4 Ashkenazi Jewish grandparents)

Participant type

Healthy volunteer

Age group




Target number of participants


Participant exclusion criteria

1. Known BRCA mutation in an individual
2. First degree relative (FDR) of an individual with known BRCA mutation
3. Individuals who have already undergone BRCA founder mutation (FM) testing

Recruitment start date


Recruitment end date



Countries of recruitment

United Kingdom

Trial participating centre

University College London
United Kingdom

Sponsor information


University College London (UK)

Sponsor details

c/o Dr Oke Avwenagha
Research Governance Co-ordinator
Joint UCLH/UCL Biomedical Research Unit
Rosenheim Wing
Ground Floor
25 Grafton Way
United Kingdom
+44 (0)20 7380 9928

Sponsor type




Funder type


Funder name

Eve Appeal (UK)

Alternative name(s)

Funding Body Type

Funding Body Subtype


Results and Publications

Publication and dissemination plan

Not provided at time of registration

Intention to publish date

Participant level data

Not provided at time of registration

Basic results (scientific)

Publication list

2016 results in:

Publication citations

Additional files

Editorial Notes

21/03/2016: Publication reference added.