Genetic Health in the 21st Century

The Genetic Profile of Scottish People

Peterheadharbour_01_WebGeneration Scotland: Genetic Health in the 21st Century (GS:21CGH) has recruited nearly 2,000 individuals from 6 different regions of Scotland (Aberdeen, Banff, Dundee, Edinburgh, Glasgow and Peterhead). Basic physical measurements, a blood sample, and lifestyle information have been collected from each participant. The aim of 21CGH is to build control cohorts that are representative of Scotland 's sub-populations. Screening for medically important genetic variants is potentially easier in stable rural sub-populations, which show reduced haplotype diversity and increased linkage disequilibrium. In addition, characterisation of control cohorts from different subpopulations helps to avoid false positive associations which can occur if a disease is common in a particular subpopulation. Analysis of 21CGH samples will create a knowledge base of genetic information that will be invaluable to current and future studies. Lymphoblastoid cell lines will be established from about 500 individuals to provide a permanent resource for genomic and proteomic analyses.

For information about using the samples and data collected by GS:21CGH, please see the Generation Scotland Resources page.

Data Management

Another key aim of 21CGH is the development of data management systems, which will ensure that participant data are collected efficiently and stored securely. These systems have been designed so that the individual records can be automatically updated from health records in the future while maintaining participant anonymity.

Ethical, Legal and Social Implications

Research into the public perception of Generation Scotland and its attendant ethical, legal and social implications (ELSI) has been a core component of 21CGH. The ELSI programme has investigated issues surrounding consent for current and future research activities, data security and confidentiality, and ownership and use of genetic data. A report on Legal and Ethical Aspects can be viewed here. A programme of public engagement has been carried out and reports on the Preliminary Consultation Exercise and the Public Consultation Discussion Paper are available here. This research also supports the Scottish Family Health Study.


21CGH was funded by a £1.79m grant from the Scottish Higher Education Funding Council (now the Scottish Funding Council) through their Strategic Research Development Grant Initiative (see Timeline).