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Generation Scotland - Genetic Health in the 21st Century [GS-21GHC] Download as PDF

GENERAL INFORMATION

Name Generation Scotland - Genetic Health in the 21st Century
Acronym GS-21GHC
Last update 08/25/2009

Affiliation

Principal investigators

David Porteous (Prof. / Executive Principal Investigator)
Blair Smith (Dr. / Executive Principal Investigator)
David Reid (Prof.)
Ian Ford (Prof.)
Andrew Morris (Prof. / Executive Principal Investigator)
Stuart Ralston (Prof.)
Anna Dominiczak (Prof. / Executive Principal Investigator)
Harry Campbell (Prof.)

Contact

Pamela Linksted (Dr./ Chief Operations Officer)
University of Edinburgh, Molecular Medicine Centre
Edinburgh EH4 2XU
Email: pamela.linksted@ed.ac.ukMail

Website

OBJECTIVES

The principal objective of this study (GS:21CGH) is to establish the genetic profile of a control population of people living in Scotland in relation to health and disease. In this respect, the aim is to provide a resource of control DNA and genetic information to aid in the design of future studies, limiting the further need to obtain fresh control blood/DNA samples and to provide a knowledge base from which future genetic studies can be compared.

METHODS

Legend Yes No Unknown

General design

Study design Cohort
Type of participants Individuals
Target or final number of participants 2500
Target or final number of DNA No information available

Participant selection / Characteristics of the population

Selection criteria

Yes Age Minimun: 35 years    Maximun: 80 years
Yes Country of residence Scotland

Data Sources

  Cross-sectional Longitudinal follow-up
Yes Questionnaires to participants/respondents Yes No
Yes Direct physical measures Yes No
Yes Biological samples Yes No

Sample management

Biological samples

Yes Blood Yes Buccal cells
No Cord blood No Tissues
Unknown Saliva Unknown Urine

GOVERNANCE

Legend Yes No

Allow access to data or samples to external researchers

Unknown Data (questionnaire-derived, measured…)
Unknown Biological samples

STATUS

Current status

Phase Start End
Preparation phase/Pilot 2003 2008
Baseline recruitment / initial data collection 2006 2009
Follow-up of participants -- --
Current number of participants recruited 1400 in date of 08/19/2009
Current number of collected DNA samples 1400 in date of 08/19/2009

General Information

Name Genetic Health in the 21st Century (21CGH) Electronic Questionnaire: Paper Backup
Last update 02/27/2009
Version or reference year v2.1

Questionnaire owner

  • Generation Scotland

Contact

David J Porteous (Prof.)
Head, Medical Genetics Section, University of Edinburgh, Molecular Medicine Center, Western General Hospital
Edinburgh EH4 2XU
Phone: 0131 651 1041
Email: david.porteous@ed.ac.uk; 21CGH@generationscotland.orgMail

Information on validity

Questionnaire is a subset of questions from PCQ used in Generation Scotland SFHS.

Methods

Legend Yes No

Respondent

  • Yes Participant
  • No Proxy

Administration environment

  • No Over the phone
  • Yes Hospital, clinic, university or recruitment center
  • No Respondent / Proxy residence

Administration mode

  • No Auto administered
  • No Auto administrated with face to face validation by trained personnel
  • Yes Administrated by trained personel / Physician

Administration format

  • No Paper questionnaire
  • Yes Computerized

Administration language

  • English

Documents

Available Format

  • Adapted questionnaireWeb page
  • Original questionnairePDF

NOTICE: HTML document format may differ slightly from the actual questionnaire. Please refer to the original PDF document for exact reproduction.

General Information

Name Genetic Health in the 21st Century (21CGH) Electronic Questionnaire: Paper Backup
Number of Question Blocks 17

Questionnaire and Question Block List

Click on the View block to see the block of questions related to a domain or a group of domains.
Block 1 View block
  • Sociodemographic Characteristics / Age/Birth Date / Subject age / birth date
Block 2 View block
  • Sociodemographic Characteristics / Gender
Block 3 View block
  • Sociodemographic Characteristics / Birth location / Subject's birth location
  • Sociodemographic Characteristics / Residence / Residential History
Block 4 View block
  • Sociodemographic Characteristics / Ethnicity/Race
Block 5 View block
  • Health Information / Individual Disease history / Diseases of the skin and subcutaneous tissue
  • Health Information / Medication Intake (ATC/DDD) / Cardiovascular system (C)
  • Health Information / Medication Intake (ATC/DDD) / Musculo-skeletal system (M)
  • Health Information / Medication Intake (ATC/DDD) / Genito urinary system and sex hormones (G)
  • Health Information / Individual Disease history / Diseases of the digestive system
  • Health Information / Individual Disease history / Diseases of the nervous system
  • Health Information / Individual Disease history / Diseases of the ear and mastoid process
  • Health Information / Individual Disease history / Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
  • Health Information / Medication Intake (ATC/DDD) / Nervous system (N)
  • Health Information / Individual Disease history / Diseases of the circulatory system
  • Health Information / Individual Disease history / Certain infectious and parasitic diseases
  • Health Information / Individual Disease history / Pregnancy, childbirth and the puerperium
  • Health Information / Individual Disease history / Diseases of the genitourinary system
  • Health Information / Medication Intake (ATC/DDD) / Systemic hormonal preparations, excl. Sex hormones and insulins (H)
  • Health Information / Individual Disease history / Diseases of the respiratory system
  • Health Information / Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified
  • Health Information / Medication Intake (ATC/DDD) / Respiratory system (R)
  • Health Information / Medication Intake (ATC/DDD) / Antineoplastic and immunomodulating agents (L)
  • Health Information / Medication Intake (ATC/DDD) / Alimentary tract and metabolism (A)
  • Health Information / Individual Disease history / Diseases of the musculoskeletal system and connective tissue
  • Health Information / Individual Disease history / Endocrine, nutritional and metabolic diseases
  • Health Information / Individual Disease history / Mental and behavioural disorders
  • Health Information / Individual Disease history / Injury, poisoning and certain other consequences of external causes
  • Health Information / Individual Disease history / Congenital malformations, deformations and chromosomal abnormalities
  • Health Information / Individual Disease history / Diseases of the eye and adnexa
  • Health Information / Individual Disease history / Certain conditions originating in the perinatal period
  • Health Information / Individual Disease history / External causes of morbidity and mortality
  • Health Information / Individual Disease history / Neoplasms
Block 6 View block
  • Health Information / Familial Disease History (ICD10*) / Mental and behavioural disorders
  • Health Information / Familial Disease History (ICD10*) / Diseases of the skin and subcutaneous tissue
  • Health Information / Familial Disease History (ICD10*) / Diseases of the musculoskeletal system and connective tissue
  • Health Information / Familial Disease History (ICD10*) / Diseases of the digestive system
  • Health Information / Familial Disease History (ICD10*) / Diseases of the eye and adnexa
  • Health Information / Familial Disease History (ICD10*) / Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
  • Health Information / Familial Disease History (ICD10*) / Diseases of the nervous system
  • Health Information / Familial Disease History (ICD10*) / Diseases of the ear and mastoid process
  • Health Information / Familial Disease History (ICD10*) / Diseases of the respiratory system
  • Health Information / Familial Disease History (ICD10*) / Endocrine, nutritional and metabolic diseases
  • Health Information / Familial Disease History (ICD10*) / Diseases of the genitourinary system
  • Health Information / Familial Disease History (ICD10*) / Certain infectious and parasitic diseases
  • Health Information / Familial Disease History (ICD10*) / Neoplasms
  • Health Information / Familial Disease History (ICD10*) / Diseases of the circulatory system
  • Health Information / Familial Disease History (ICD10*) / Congenital malformations, deformations and chromosomal abnormalities
  • Health Information / Familial Disease History (ICD10*) / Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified
  • Health Information / Familial Disease History (ICD10*) / Pregnancy, childbirth and the puerperium
  • Health Information / Familial Disease History (ICD10*) / External causes of morbidity and mortality
  • Health Information / Familial Disease History (ICD10*) / Injury, poisoning and certain other consequences of external causes
  • Health Information / Familial Disease History (ICD10*) / Certain conditions originating in the perinatal period
Block 7 View block
  • Sociodemographic Characteristics / Age/Birth Date / Subject's Relatives Age / Birth Date
Block 8 View block
  • Sociodemographic Characteristics / Birth location / Subject's family's birth location
Block 9 View block
  • Health Information / Familial Disease History (ICD10*) / External causes of morbidity and mortality
  • Health Information / Familial Disease History (ICD10*) / Mental and behavioural disorders
  • Health Information / Familial Disease History (ICD10*) / Diseases of the circulatory system
  • Health Information / Familial Disease History (ICD10*) / Endocrine, nutritional and metabolic diseases
  • Health Information / Familial Disease History (ICD10*) / Diseases of the genitourinary system
  • Health Information / Familial Disease History (ICD10*) / Diseases of the nervous system
  • Social Environment / Familial and social environment
  • Health Information / Familial Disease History (ICD10*) / Diseases of the digestive system
  • Health Information / Familial Disease History (ICD10*) / Injury, poisoning and certain other consequences of external causes
  • Health Information / Familial Disease History (ICD10*) / Neoplasms
  • Health Information / Familial Disease History (ICD10*) / Certain infectious and parasitic diseases
Block 10 View block
  • Sociodemographic Characteristics / Birth location / Subject's family's birth location
Block 11 View block
  • Sociodemographic Characteristics / Age/Birth Date / Subject's Relatives Age / Birth Date
Block 12 View block
  • Sociodemographic Characteristics / Birth location / Subject's family's birth location
Block 13 View block
  • Health Information / Familial Disease History (ICD10*) / Certain infectious and parasitic diseases
  • Social Environment / Familial and social environment
  • Health Information / Familial Disease History (ICD10*) / Diseases of the circulatory system
  • Health Information / Familial Disease History (ICD10*) / Neoplasms
  • Health Information / Familial Disease History (ICD10*) / External causes of morbidity and mortality
  • Health Information / Familial Disease History (ICD10*) / Mental and behavioural disorders
  • Health Information / Familial Disease History (ICD10*) / Injury, poisoning and certain other consequences of external causes
  • Health Information / Familial Disease History (ICD10*) / Diseases of the genitourinary system
  • Health Information / Familial Disease History (ICD10*) / Diseases of the digestive system
  • Health Information / Familial Disease History (ICD10*) / Diseases of the nervous system
  • Health Information / Familial Disease History (ICD10*) / Endocrine, nutritional and metabolic diseases
Block 14 View block
  • Sociodemographic Characteristics / Birth location / Subject's family's birth location
Block 15 View block
  • Life Habits/Behaviours / Tobacco use
Block 16 View block
  • Physical Environment / Environmental exposures / Chemical environmental exposures / Passive Smoke Exposure
  • Physical Environment / Occupational Exposures / Chemical Occupational Exposures / Passive Smoke Exposure
Block 17 View block
  • Socioeconomic Characteristics / Education level / Subject education level

GENERAL INFORMATION

Study name Generation Scotland - Genetic Health in the 21st Century [GS-21GHC]
Last update 04/09/2009
Collected at phase Baseline

Contact

Pamela Linksted (Dr./ Chief Operations Officer)
Edinburgh EH4 2XU
Email: pamela.linksted@ed.ac.ukMail

Physical and cognitive measures collected

Legend Yes No

BODY STRUCTURES

ANTHROPOMETRIC STRUCTURES

Anthropometric measures

Yes Weight

Yes Height

Yes Standing height

BODY FUNCTIONS

MENTAL FUNCTIONS

Global mental functions

Yes Other global mental functions (e.g. IQ) (Eysenck Personality Questionnaire)

Specific mental functions

Yes Memory functions (Logical memory test immediate, Logical memory delay)

Yes Other specific mental functions (Digit Symbol Coding)

VOICE AND SPEECH FUNCTIONS

Fluency and rhythm of speech functions

Yes Speech fluency (verbal fluency)

Yes Other measures of the voice and speech functions (Mill Hill vocabulary)

FUNCTIONS OF THE CARDIOVASCULAR AND RESPIRATORY SYSTEMS

Functions of the cardiovascular system

Yes Blood pressure (At rest)

Yes Heart rate

Yes Heart rate at rest

Administration mode

Legend Yes No

Administration environment

Yes Hospital, clinic, university or recruitment center

No Participant residence

No Other

Staff administering test

Yes Professionals (nurses, clinicians, etc)

No Interviewers/research assistants

No Other

Documentation on procedures

Administration language English

Utilization conditions

None

Standard operating procedures (SOPs) or reference information

General Information

Study name Generation Scotland - Genetic Health in the 21st Century [GS-21GHC]
Last update 08/19/2009

Contact

Lee Murphy (PhD)
 Edinburgh EH4 2XU
Phone: 0131 537 3370
Email: Lee.Murphy@ed.ac.ukMail
Utilization conditions None

Samples

Legend Yes No
Sample name Blood Saliva
  Main laboratory WellcomeTrust Clinical Research Facility Western General Hospital, Edinburgh, Scotland WellcomeTrust Clinical Research Facility Western General Hospital, Edinburgh, Scotland
  Sample labels/traceability (% of samples)
  • No RFID radio frequency identification
  • No Barcode
  • No Printed labels
  • No Handwritten numbers
  • No Others
  • No RFID radio frequency identification
  • No Barcode
  • No Printed labels
  • No Handwritten numbers
  • No Others
Pre-extraction sample storage format Substrate storage condition
  • Yes Fresh (in EDTA)
  • No Refrigerated
  • Yes Frozen (in EDTA, -40°C)
  • No Dried (paper)
  • No Liquid Nitrogen
  • No Other
  • Yes Fresh
  • No Refrigerated
  • Yes Frozen (-40°C)
  • No Dried (paper)
  • No Liquid Nitrogen
  • No Other
Substrate storage period
  • No Short term
  • No Long term
  • No Short term
  • No Long term
DNA extraction DNA extraction method
  • Yes Salting out
  • Yes Phenol-chloroform
  • Yes Columnary-extraction
  • No Magnetic beads
  • No Oragene (saliva)
  • No Others
  • No Salting out
  • No Phenol-chloroform
  • No Columnary-extraction
  • No Magnetic beads
  • Yes Oragene (saliva)
  • No Others
Automation of handling
  • Yes Manual
  • No Automated
  • Yes Manual
  • No Automated
Protocols
DNA handling and storage DNA diluent
  • Yes TE
  • No H2O
  • No Others
  • Yes TE
  • No H2O
  • No Others
DNA concentration (ng/µl)
Storage conditions
  • No 4°C
  • No -20°C
  • Yes -40°C
  • No -80°C
  • No Dried
  • No Others
  • No 4°C
  • No -20°C
  • Yes -40°C
  • No -80°C
  • No Dried
  • No Others
Protocols
DNA quantification Methods
  • No A260/A280
  • Yes Picogreen
  • No Nanodrop
  • No Others
  • No A260/A280
  • Yes Picogreen
  • No Nanodrop
  • No Others
Technical quality
  • No Automated
  • No Manual
  • No Reproducibility
  • No Automated
  • No Manual
  • No Reproducibility
DNA quality control Percentage of samples that are tested 8.7 8.7
DNA quality method
  • Yes Agarose gel
  • No PCR
  • Yes A260/A280 ratio
  • No Others
  • Yes Agarose gel
  • No PCR
  • Yes A260/A280 ratio
  • No Others
Protocols 8 samples out of every 92 is run on a gel (to check for degradation) and on the UV spectrophotometer (to check for contamination). 8 samples out of every 92 is run on a gel (to check for degradation) and on the UV spectrophotometer (to check for contamination).
DNA analysis Platforms
  • No Gentoyping
  • No Sequencing
  • No Methylation
  • No CNVs
  • No CGH
  • No FISH
  • No Other
  • No Gentoyping
  • No Sequencing
  • No Methylation
  • No CNVs
  • No CGH
  • No FISH
  • No Other
Technical quality
  • No Automated
  • No Manual
  • No Reproducibility
  • No Automated
  • No Manual
  • No Reproducibility

General Information

Study name Generation Scotland - Genetic Health in the 21st Century [GS-21GHC]
Last update 04/09/2009

Contact

Archie Campbell
University of Edinburgh
Edinburgh EH4 2XU
Phone: +44 0131 537 2834
Email: archie.campbell@ed.ac.ukMail

Software

Legend Yes No

Software overview

Biobanking areas covered eCRF v2 Stats DataCheck STARLIMS v2.10.11 eCRF v1
Participant recruitment (ex: CATI, CRM)
Data collection Yes Yes
Sample collection, storage and processing Yes
Data repository Yes Yes Yes
Other
 
Programming language eCRF v2 Stats DataCheck STARLIMS v2.10.11 eCRF v1
Name and version of programming language Borland Delphi v.10 Borland Delphi v.10 Borland Delphi v.10 Microsoft Infopath
 
Internal/external development eCRF v2 Stats DataCheck STARLIMS v2.10.11 eCRF v1
In-house by IT department Yes Yes Yes Yes
By an external company Yes
 
Shareability eCRF v2 Stats DataCheck STARLIMS v2.10.11 eCRF v1
Freely available
Purchaseable Yes
Needs extensive work
Not for share Yes Yes Yes Yes

Software details

Biobanking areas covered

  • No Participant recruitment (ex: CATI, CRM)
  • Yes Data collection
  • Yes Questionnaires (ex: CAPI)
  • Yes Physical and cognitive measures
  • No Sample collection, storage and processing
  • No Collection
  • No Sample bio-repository management system (ex: sample storage management software)
  • No LIMS (ex: biochemical analysis, DNA extraction, genotyping)
  • Yes Data repository
  • No Data warehousing
  • Yes Study monitoring (ex: quality control)
  • Yes User data / sample request management

Name and version of programming language

Borland Delphi v.10

Internal/external development

  • Yes In-house by IT department
  • No By an external company

Shareability

  • No Freely available
  • No Purchaseable
  • No Needs extensive work
  • Yes Not for share

Biobanking areas covered

  • No Participant recruitment (ex: CATI, CRM)
  • No Data collection
  • No Questionnaires (ex: CAPI)
  • No Physical and cognitive measures
  • No Sample collection, storage and processing
  • No Collection
  • No Sample bio-repository management system (ex: sample storage management software)
  • No LIMS (ex: biochemical analysis, DNA extraction, genotyping)
  • Yes Data repository
  • No Data warehousing
  • Yes Study monitoring (ex: quality control)
  • No User data / sample request management

Name and version of programming language

Borland Delphi v.10

Internal/external development

  • Yes In-house by IT department
  • No By an external company

Shareability

  • No Freely available
  • No Purchaseable
  • No Needs extensive work
  • Yes Not for share

Biobanking areas covered

  • No Participant recruitment (ex: CATI, CRM)
  • No Data collection
  • No Questionnaires (ex: CAPI)
  • No Physical and cognitive measures
  • No Sample collection, storage and processing
  • No Collection
  • No Sample bio-repository management system (ex: sample storage management software)
  • No LIMS (ex: biochemical analysis, DNA extraction, genotyping)
  • Yes Data repository
  • No Data warehousing
  • Yes Study monitoring (ex: quality control)
  • No User data / sample request management

Name and version of programming language

Borland Delphi v.10

Internal/external development

  • Yes In-house by IT department
  • No By an external company

Shareability

  • No Freely available
  • No Purchaseable
  • No Needs extensive work
  • Yes Not for share

Biobanking areas covered

  • No Participant recruitment (ex: CATI, CRM)
  • No Data collection
  • No Questionnaires (ex: CAPI)
  • No Physical and cognitive measures
  • Yes Sample collection, storage and processing
  • No Collection
  • Yes Sample bio-repository management system (ex: sample storage management software)
  • Yes LIMS (ex: biochemical analysis, DNA extraction, genotyping)
  • No Data repository
  • No Data warehousing
  • No Study monitoring (ex: quality control)
  • No User data / sample request management

Internal/external development

  • No In-house by IT department
  • Yes By an external company (StarLIMS)

Shareability

  • No Freely available
  • Yes Purchaseable
  • No Needs extensive work
  • No Not for share

Biobanking areas covered

  • No Participant recruitment (ex: CATI, CRM)
  • Yes Data collection
  • Yes Questionnaires (ex: CAPI)
  • Yes Physical and cognitive measures
  • No Sample collection, storage and processing
  • No Collection
  • No Sample bio-repository management system (ex: sample storage management software)
  • No LIMS (ex: biochemical analysis, DNA extraction, genotyping)
  • No Data repository
  • No Data warehousing
  • No Study monitoring (ex: quality control)
  • No User data / sample request management

Name and version of programming language

Microsoft Infopath

Internal/external development

  • Yes In-house by IT department
  • No By an external company

Shareability

  • No Freely available
  • No Purchaseable
  • No Needs extensive work
  • Yes Not for share

Supplementary informations

Written for this study

Comments

No information available

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