Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability.
BACKGROUND
Generation Scotland: the Scottish Family Health Study aims to identify genetic variants accounting for variation in levels of quantitative traits underlying the major common complex diseases (such as cardiovascular disease, cognitive decline, mental illness) in Scotland.


METHODS
Generation Scotland will recruit a family-based cohort of up to 50,000 individuals (comprising siblings and parent-offspring groups) across Scotland. It will be a six-year programme, beginning in Glasgow and Tayside in the first two years (Phase 1) before extending to other parts of Scotland in the remaining four years (Phase 2). In Phase 1, individuals aged between 35 and 55 years, living in the East and West of Scotland will be invited to participate, along with at least one (and preferably more) siblings and any other first degree relatives aged 18 or over. The total initial sample size will be 15,000 and it is planned that this will increase to 50,000 in Phase 2. All participants will be asked to contribute blood samples from which DNA will be extracted and stored for future investigation. The information from the DNA, along with answers to a life-style and medical history questionnaire, clinical and biochemical measurements taken at the time of donation, and subsequent health developments over the life course (traced through electronic health records) will be stored and used for research purposes. In addition, a detailed public consultation process will begin that will allow respondents' views to shape and develop the study. This is an important aspect to the research, and forms the continuation of a long-term parallel engagement process.


CONCLUSIONS
As well as gene identification, the family-based study design will allow measurement of the heritability and familial aggregation of relevant quantitative traits, and the study of how genetic effects may vary by parent-of-origin. Long-term potential outcomes of this research include the targeting of disease prevention and treatment, and the development of screening tools based on the new genetic information. This study approach is complementary to other population-based genetic epidemiology studies, such as UK Biobank, which are established primarily to characterise genes and genetic risk in the population.
Smith
Blair H
BH
University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK. blairsmith@abdn.ac.uk
Campbell
Harry
H
Blackwood
Douglas
D
Connell
John
J
Connor
Mike
M
Deary
Ian J
IJ
Dominiczak
Anna F
AF
Fitzpatrick
Bridie
B
Ford
Ian
I
Jackson
Cathy
C
Haddow
Gillian
G
Kerr
Shona
S
Lindsay
Robert
R
McGilchrist
Mark
M
Morton
Robin
R
Murray
Graeme
G
Palmer
Colin N A
CN
Pell
Jill P
JP
Ralston
Stuart H
SH
St Clair
David
D
Sullivan
Frank
F
Watt
Graham
G
Wolf
Roland
R
Wright
Alan
A
Porteous
David
D
Morris
Andrew D
AD
D000293:Adolescent; D000328:Adult; D026688:Bioethical Issues; D015331:Cohort Studies; D003627:Data Interpretation, Statistical; D030541:Databases, Genetic; D015340:Epidemiologic Research Design; D005192:Family Health; D020022:Genetic Predisposition to Disease; D036281:Genetic Research; D014644:Genetic Variation; D006801:Humans; D008875:Middle Aged; D018579:Patient Selection; D010865:Pilot Projects; D019655:Quantitative Trait, Heritable; D012606:Scotland; D011795:Surveys and Questionnaires