Active not recruitingOBSERVATIONAL

Population Genomic Diversity of France

This French study, called POPGEN, is collecting genetic information from 10,000 volunteers across France. Volunteers provide a saliva sample, from which DNA is extracted and analysed. The goal is to build a detailed map of how genes vary in different parts of France. This information is crucial because tiny differences in our genes can sometimes cause health problems. Knowing the 'usual' genetic patterns in specific regions will help doctors more easily spot unusual genetic changes that might be linked to a disease when they test a patient's DNA. This means faster and more accurate diagnoses for genetic conditions, ultimately improving patient care.

At a glance

Status

Active not recruiting

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Enrolment target

10,250

Start

31 Mar 2021

Estimated completion

31 Mar 2031

Genetics, Population

What is this study about?

Imagine every person's DNA as a unique instruction book. Sometimes, a tiny spelling mistake in this book can lead to a health problem. When doctors try to find these ’spelling mistakes’ in patients, it's like looking for a needle in a haystack because everyone has millions of small differences in their DNA. The real challenge is finding the differences that actually cause disease, not just the harmless ones.

This POPGEN study aims to make that task much easier. It's collecting DNA information from a large number of healthy people across France. By doing this, researchers are creating a 'reference library' of what normal genetic variations look like in different French regions. Think of it like a regional dialect dictionary for genes! If a patient from a particular region has a genetic difference, doctors can then compare it to this local 'normal' reference. This will help them quickly figure out if that genetic difference is common and harmless for people from that area, or if it's unusual and likely linked to their health issue. This project is a key part of France's plan to use genetic information more routinely in healthcare to improve diagnoses.

Ultimately, this work helps doctors narrow down which genetic changes are actually important for a patient's diagnosis. This is especially helpful in conditions where a genetic cause is suspected but hard to pinpoint. By having this detailed map of genetic diversity, healthcare professionals can achieve faster and more accurate diagnoses, paving the way for better and more personalised care for patients with genetic conditions.

Key takeaways

The study aims to create a 'genetic map' of France.
It uses saliva samples to collect DNA from volunteers.
The goal is to improve diagnosis of genetic diseases.
Participation involves providing a single saliva sample.
Your privacy and data security are carefully protected.
It contributes to future healthcare improvements without direct personal benefit.

Who may be eligible?

To join this study, you must already be a part of the CONSTANCES cohort – that's a large group of people who have agreed to share their health data for research in France. You also need to have given your specific permission for your data to be used in this particular genetic study.

The study is looking for people whose family background comes from different regions across France, specifically excluding the western part. You must be at least 18 years old to take part, and both men and women are welcome.

However, if you haven't returned a signed consent form, or if you're under a legal guardianship that prevents you from giving your own informed consent, you won't be able to participate. The study needs clear agreement from everyone involved.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you currently part of the CONSTANCES health study?
Have you agreed to share your health data for research through CONSTANCES?
Is your family background from a region of France (excluding the far west)?
Are you 18 years old or older?
Can you provide your own clear, written consent to participate?

Answer every question to see your result.

What does participation involve?

If you are eligible and decide to take part, you will be providing a saliva sample. This is a simple, non-invasive process, usually done by spitting into a small tube. From this sample, researchers will extract your DNA for analysis. There are no clinic visits beyond collecting the sample (often done by mail), no medications to take, and no specific follow-up appointments directly related to this study. The total duration of your direct involvement is minimal, focused solely on the collection of the saliva sample. Your genetic information will then be analysed as part of the broader research project.

Potential risks and benefits

The main benefit of taking part is contributing to important medical research that aims to improve how genetic conditions are diagnosed in the future, potentially helping many people. This study does not offer direct personal health benefits or medical advice to individual participants. The primary risk is that your genetic information, even when anonymised, is being collected and studied. While strict measures are in place to protect your privacy and keep your data secure, there's always a theoretical, very small risk of a data breach. You have the right to withdraw from the study at any time, which means your participation can stop without affecting any medical care you receive.

Locations (1)

Inserm - UMR1078 GGB
Verified postcode
Brest, France

Common questions

What is DNA and why do doctors need to study it?

DNA is like your body's instruction manual. Doctors study it to understand what makes us unique and how certain 'spelling mistakes' in this manual can lead to health problems or diseases.

What is a saliva sample and how is it collected?

A saliva sample is simply spit. It's collected non-invasively by asking you to spit into a small tube. It contains enough of your cells to get your DNA.

Will I get any health results from this study?

No, this study is for research purposes only and focuses on understanding general population genetics. You will not receive any individual health results or medical advice from participating.

How will my personal information be kept private?

Researchers use strict methods to protect your privacy. Your DNA samples and data are typically coded (anonymised) so that your personal identity is separated from your genetic information, and only authorised researchers can access it.

Why is it important to study French population genetics specifically?

Genetic patterns can vary between different regions and populations. Knowing the 'normal' genetic variations within France specifically will help doctors more accurately identify genetic causes of diseases in French patients, rather than using data from other countries which might not be a perfect match.