Skip to site navigation

UCL Elizabeth Garrett Anderson Institute for Women's Health


Genetic Cancer Prediction through Population Screening (GCaPPS) - Health Professional Version

Design / Intervention

Randomised controlled trial with two arms:

  1. A Family History Group (Screening on the basis of family history)*
  2. A Systematic Screening group (Screening everyone irrespective of family history)
Objectives / aims To compare a systematic population based approach to genetic testing for germline cancer predisposition to the current approach based on family history
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
Endpoints / primary outcomes
  1. Number of BRCA founder mutations (FM) detected
  2. Acceptability
  3. Psychological impact
  4. Uptake of screening and preventive strategies
  5. Health economic implications
Inclusion criteria
  1. Age over 18 years
  2. Ashkenazi Jewish ethnicity (based on self reported history of 4 grandparents)
Recruitment Volunteers (men and women) fulfilling the inclusion criteria may take part in the trial. A detailed information sheet will be provided to those expressing an interest and eligibility will be established from information provided by the volunteer. Individuals can volunteer or be referred to participate in this trial.
All volunteers will be asked to fill a family history assessment form and baseline questionnaire prior to counselling. Genetic counselling and a decision making tool in the form of an educational booklet will be provided to all volunteers. Testing is completely voluntary and participants can decide whether they wish to undergo testing after counselling. Those consenting to testing after counselling will provide a peripheral blood sample for genetic analyses and undergo randomisation.
Exclusion from randomisation
  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 FM testing
Planned sample size 10,000 volunteers (men and women): 5,000 randomised to screening on the basis of Family History and 5,000 randomised to Systematic screening.
Follow up (FU) Referral to genetic clinics: FM positive volunteers will receive further genetic counselling within the trial. They will also be referred to a high-risk regional genetics clinic via their GPs. They will be able to access established early detection or preventive strategies through these clinics. Referral to a dedicated clinical psychologist will also be offered to individuals needing additional psychological support. FM negative volunteers who fulfil high-risk criteria for the general population will also be referred to genetic clinics for non-FM screening.
FU Questionnaires: FU questionnaires will be used at baseline, 7 days, 3 months, 1, 2 and 3 years follow-up to evaluate attitude, knowledge, satisfaction, psychological impact, quality of life (QoL), uptake of preventive strategies, lifestyle behaviours and health economics.
Non-responders: In all cases, questionnaires not returned or incomplete will be followed up via the GP or telephone as appropriate and feasible.
Trial duration Autumn 2008 - Autumn 2013
Pilot Phase (1000 volunteers): Autumn 2008 - Autumn 2009
Contact details

GCaPPS, Gynaecological Cancer Research Centre (GCRC)
EGA Institute for Women’s Health, UCL, 1st Floor, Maple House
149 Tottenham Court Road, London W1T 7DN
Fax: 020 73806929, Tel: 020 73806915,

Email: gcapps@ucl.ac.uk
Website: www.gcapps.org.uk
Funding bodies The Eve Appeal

*Those with a negative family history can opt for testing at the end of the study.

Page last modified on 22 sep 09 12:04 by Web Editor