Canadian group publishes guidelines for clinical genetic data sharing

Across medicine, next-generation genome sequencing is transforming the ways doctors diagnose and treat diverse conditions. Along the way, more and more genetic data is captured and studied, information that is of widespread importance to health-care professionals, researchers and families everywhere when it comes to spotting clinically relevant genetic findings.   

Yet today there are no organized, standardized ways to share clinical genetic data from lab to lab, province to province, country to country. This is a gap recognized by the Canadian College of Medical Geneticists, which convened a group of multidisciplinary experts to establish recommendations that guide the responsible sharing of genetic data.  

Co-chaired by Dr. Kathy Chun, Clinical Laboratory Director, Genome Diagnostics at The Hospital for Sick Children (SickKids), the group has published the first guidelines to support the secure, ethical and effective genetic data sharing by Canadian clinical laboratories in the American Journal of Human Genetics.   

In this Q&A, Chun takes us inside the new guidelines, the keys to data sharing, how maintaining privacy is essential, and how it will help unlock precision medicine.  

Your report describes clinical genetic data sharing as an ethical imperative. Why?  

Clinical data sharing is an ethical imperative because we have responsibilities not only to our individual patients but also to the broader society. To this end, we should share valuable genetic data publicly to the greatest extent possible. 

By sharing genomic and clinical information, health-care providers can compare findings, understand how variants are being interpreted elsewhere, and learn from patients with similar genetic profiles. It's critical to determine if a genetic variant is pathogenic or benign because it can confirm or exclude a diagnosis quickly, and clinical management may depend on it. Sharing genetic data also advances health equity by being more inclusive of historically underrepresented populations.   

Ultimately, sharing clinical genetic data improves diagnostic accuracy, shortens prolonged diagnostic journeys, fosters equity in variant interpretation and accelerates the generation of knowledge that benefits patients and families. 

How far have we come with genetic data sharing, and what’s next?  

Historically, there was a lot of tension around genetic data ownership between private companies with financial interests — who were not inclined to share data — and those in academia who were.  

Over time, public databases and sharing initiatives emerged, supported in part by court rulings against gene patents, government funding and advocacy. In Canada, national efforts such as the All for One research initiative and genomic data-sharing projects have helped push this area forward. Although we developed these recommendations for the Canadian context, any jurisdiction, institution or professional group could adapt them for their own policies and practices. 

In the future, I can foresee larger, more comprehensive datasets being assembled thanks to global clinical data sharing. We’ll see countless more patients benefit from the knowledge that's gathered internationally.  

What hurdles must we overcome here in Canada?  

As we all know, health care falls to each province and territory, so there’s long been a fragmented system where genetic data is overseen by individual institutions. Labs can only access their own data or use publicly available resources — and communal knowledge can’t grow out of silos.  

We have to level the playing field. Connecting labs is a challenge because they vary widely in their resources and technical infrastructure. Some, for instance, have advanced bioinformatics capabilities while others don’t have that level of infrastructure. So, we suggest Canadian labs share expertise, tools, technological protocols and bioinformatics pipelines so that we better function as a network.  

Another important issue is how we classify genetic variants, because geneticists can interpret evidence differently. But data sharing opens a window to compare interpretations, discuss discordances and improve consistency. 

What should patients or families take away from these guidelines?  

Families should know that privacy and ethics were the biggest topics of conversation. Our group explored what types of data should be shared, how to maintain privacy even in combined datasets, and the many ethical considerations at play.  

Privacy protection is paramount and we are recommending the highest level of precautions possible to protect their private genetic information. Also, I’d want to reassure them that our guidelines underscore the responsible use of data, meaning it can only be used for the purposes someone provided it for, with no unauthorized or unintended uses. 

I’d like to emphasize that patient and family perspectives were critical to informing the development of our guidelines, which align with their expectations around preserving meaningful choice and control over how their data are shared, transparent, clear and accessible information and opportunities to ask questions. 

Is responsible data sharing key to precision medicine or Precision Child Health? 

It is a necessary lever. Precision genomic medicine will always depend on the accurate interpretation of genetic information. If we share data and we are all on the same page, it improves our collective understanding of that data so that we can deliver more precise care and improve outcomes for individual patients.   

SickKids is the number one paediatric hospital in the world two years running now, in part because we are committed to Precision Child Health. We see many children with rare genetic disorders and no clear diagnosis. Our infrastructure and expertise in determining the genetic cause of many of these conditions allow us to learn from each patient. We must share this knowledge responsibly with others so that patients and families around the world can benefit more quickly from an accurate diagnosis.