A comparison of drug-relevant genetic raw data from direct-to-consumer genetic test providers and evaluation services with conventional laboratory tests
| ISRCTN | ISRCTN24498451 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN24498451 |
- Submission date
- 05/07/2023
- Registration date
- 10/08/2023
- Last edited
- 17/10/2023
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Other
Plain English summary of protocol
Background and study aims
Exploratory, descriptive analysis to compare the results of pharmacogenomics between free available direct-to-consumer genetic testing companies (DTC-GT), i.e. 23andme or MyHeritage, and controlled laboratory methods, as a proof of concept. Biological samples (cheek swabs, venous blood) will be sent to 3-4 DTC-GT and to a Swiss laboratory. The results will be compared descriptively for CYP2D6, 2C19, 2C9 and UGT1A1 regarding the question if the data provided by DTC-GT is trustworthy. This study has no aim of validating a method, but only to give a first insight into the quality of the data that patients could explore by themselves and confront their GP with.
Who can participate?
Healthy volunteers between 18 and 75 years old with no risk for bleeding or infections
What does the study involve?
The study involves a comparison between pharmacogenomics results of free available DTC-GT with conventional laboratory testing for drug-relevant metabolic enzymes.
What are the possible benefits and risks of participating?
The benefit is that the participants will know their metabolic panel for several drug-relevant metabolic enzymes (CYP2C9, 2C19, 2D6 and UGT1A1). The only risk is a local reaction after the blood sampling.
Where is the study run from?
University Hospital of Zürich in Switzerland
When is the study starting and how long is it expected to run for?
February 2023 to February 2024
Who is funding the study?
Theodor und Eva Herzog-Egli Stiftung is funding a part of the costs of the study. Third party funds will cover the rest of the costs
Who is the main contact?
Dr. med. Jérôme Bonzon, jerome.bonzon@usz.ch
Contact information
Principal Investigator
Rämistrasse 100
Zürich
8091
Switzerland
 ORCID ID |
0000-0003-0195-0115 |
|---|---|
| Phone | +41 (0)442554074 |
| jerome.bonzon@usz.ch |
Study information
| Study design | Monocentric exploratory descriptive study |
|---|---|
| Primary study design | Observational |
| Secondary study design | Exploratory study |
| Study setting(s) | Hospital, University/medical school/dental school |
| Study type | Diagnostic |
| Participant information sheet | Not available in web format, please use contact details to request a participant information sheet |
| Scientific title | A comparison of pharmacogenomic raw genotyping data from direct-to-consumer genetic testing services and third-party interpretation websites with conventional laboratory testing |
| Study acronym | CoPharmDL |
| Study objectives | There are differences in the results between pharmacogenomic raw genotyping data from direct-to-consumer genetic testing (DTC-GT) services and third-party interpretation websites and conventional laboratory testing |
| Ethics approval(s) |
Approved 11/07/2023, Cantonal Ethics Committee Zurich (Stampfenbachstrasse 121, Zürich, 8090, Switzerland; +41 (0)2432597970; info.kek@kek.zh.ch), ref: 2023-00730 |
| Health condition(s) or problem(s) studied | Descriptive analysis of pharmacogenomic results of from DTC-GT services and third-party interpretation websites compared to conventional laboratory testing |
| Intervention | Comparison of pharmacogenomic results of from DTC-GT services and third-party interpretation websites with conventional laboratory testing regarding CYP2D6, CYP2C19, CYP2C9 and UGT1A1 |
| Intervention type | Genetic |
| Primary outcome measure | Gain an insight into the quality of personal PGx information freely accessible by patients via DTC-GT, based on the raw genotyping data provided by DTC-GT, the evaluated raw genotyping data by TPI services and by comparison to results obtained through conventional laboratory testing. Completeness and correctness of the results will be assessed descriptively for each PGx enzyme tested (CYP2D6, CYP2C19, CYP2C9 and UGT1A1). |
| Secondary outcome measures | There are no secondary outcome measures |
| Overall study start date | 23/02/2023 |
| Completion date | 29/02/2024 |
Eligibility
| Participant type(s) | Healthy volunteer |
|---|---|
| Age group | Adult |
| Lower age limit | 18 Years |
| Upper age limit | 75 Years |
| Sex | Both |
| Target number of participants | 20 |
| Key inclusion criteria | 1. Signed informed consent 2. Ability to understand and follow study procedures and understand informed consent 3. Age 18-75 years |
| Key exclusion criteria | 1. People at higher risk for infection: age over 75 years, people taking immunosuppressive drugs or with immunodeficiencies 2. People at higher risk for blood loss: people taking anticoagulation and or antiplatelet drugs, people with coagulation disorders |
| Date of first enrolment | 01/09/2023 |
| Date of final enrolment | 30/11/2023 |
Locations
Countries of recruitment
- Switzerland
Study participating centre
Rämistrasse 100
Zürich
8091
Switzerland
Sponsor information
Hospital/treatment centre
Rämistrasse 100
Zürich
8091
Switzerland
| Phone | +41 (0)442554074 |
|---|---|
| jerome.bonzon@usz.ch | |
| Website | http://www.en.usz.ch/Pages/default.aspx |
"ROR" |
https://ror.org/01462r250 |
Funders
Funder type
Charity
No information available
Results and Publications
| Intention to publish date | 31/12/2024 |
|---|---|
| Individual participant data (IPD) Intention to share | No |
| IPD sharing plan summary | Not expected to be made available |
| Publication and dissemination plan | Planned publication in a high-impact peer-reviewed journal. |
| IPD sharing plan | The datasets generated during and/or analysed during the current study are not expected to be made available due to the Swiss law on human genetic testing (GUMG) art. 13, 31 & 33. |
Editorial Notes
17/10/2023: The recruitment end date was changed from 31/10/2023 to 30/11/2023.
11/07/2023: Trial's existence confirmed by Cantonal Ethics Committee Zurich.
