Using technology to improve the diagnostic process for patients with a rare disease

Genome sequencing plays a crucial role in diagnosing rare genetic diseases and sometimes also identifying the risk of other health conditions that might not be directly related to an individual’s primary health issue. It is the process used to read the instructions of our DNA, the genetic material that is in every cell of our body and the instruction manual of our body.  This process helps researchers and health care professionals to understand the genes that determine our traits and health.

The process of deciding whether to have genome-wide sequencing (GWS; exome sequencing or genome sequencing) can be confusing and daunting to patients and families, who require support to make informed decisions on the use of genomics in their own health. Also, providing individual counselling for the multitude of potential results from genome sequencing is impractical, given the limited availability of clinical resources, genomic expertise and the current workforce shortages in Canada. This can sometimes result in significantly longer wait times and complicates the diagnostic process for patients looking for answers.

Researchers and clinicians are turning to digital technologies to address some of these roadblocks for patients. Online intervention tools can help fill the limited resources gap and support patients and families considering genomic sequencing to find a diagnosis.

Examples of these tools include Genetics Adviser and DECIDE.

Genetics Adviser

Yvonne Bombard, Associate Professor, Institute of Health Policy, Management and Evaluation, University of Toronto; Director & Canada Research Chair in Genomics Health Services Research and Policy, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto

“We build digital platforms like the Genetics Adviser to improve access to genetic testing and to help patients understand and use their test results to improve their care and health outcomes. Genetics Adviser is a patients’ digital guide to their genetic testing journey. We can improve care by partnering with patients and the communities I am trying to help with my research – those are foundational to improve the outcomes and impact of research.”

Dr. Yvonne Bombard developed Genetics Adviser, an interactive digital platform created to help a patient through their entire genetic testing journey – from consent, education, counselling, test results, management to follow-up. The platform provides user-friendly access to a full spectrum of clinical genetics and counselling services for pre and post test with results all in one location.

The digital tool was developed in partnership with patients and the communities. “Patients are the reason we do the research we do. Patients offer their expertise – their lived experience – they teach us how we can provide better care experiences. Patient-partnered research can advance the quality of care we provide in medicine, especially in genetics or genomics.” Dr. Bombard. Genetics Adviser is not limited to rare diseases; it is utilized by oncologists and other professionals across various genetic fields. The platform was also validated in clinical trials to improve patient outcomes and access to care.

Genetics Adviser also supports clinicians, including genetic counsellors, medical geneticists, specialists, and primary care providers by reducing consultation time, allowing them to see more patients and practice at the top of their scope.

The platform supports patients by giving more patients faster access to the care and support they need at their time, place and pace.

Resources

  1. Bombard Y, et al Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial. Genet Med. 2020
  2. Shickh S, et al, Bombard Y. Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial. BMJ Open. 2018
  3. Bombard Y, et al. The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results. Eur J Hum Genet. 2018
  4. Shickh S, et al. The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. Genet Med. 2021
  5. Mighton C, et al. Development of patient "profiles" to tailor counseling for incidental genomic sequencing results. Eur J Hum Genet. 2019
  6. Shickh S, et al. Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery. BMJ Open. 2022
  7. Clausen, M., et al. Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing. Genetics in Medicine Open. 2024

DECIDE Tool

Shelin Adam, Investigator and Research Genetic Counsellor, BC Children's Hospital; Clinical Assistant Professor, Department of Medical Genetics, Faculty of Medicine, University of British Columbia

“As a genetic counsellor, my interest has always been in facilitating families’ adaptation to genetic conditions and in helping them understand genetic diseases, inheritance patterns, and available genetic testing. When a parent says that they understood the information in DECIDE much better than the explanation they got from the doctor because they could watch the videos, or read the text, in their own language, and do so in the quiet of their own home, then I know we have been successful in accomplishing our goal.”

DECIDE is an interactive online decision-support tool for families considering genomic sequencing. It was developed to address challenges in accessing genetic counselling services, including geographical distance, time constraints, and the availability of trained genetics professionals.

The tool was developed through an interdisciplinary team involving doctors, genetic counsellors, genetics researchers, computer programmers, decision scientists, health economists and families with genetic conditions.

DECIDE was designed to be about inclusivity and access. Being web-based, it can be used by those living in remote areas who would not normally have easy access to a genetic counsellor. The language that is used is simple and clear, and it has also been translated into several languages. By reducing barriers, the program is designed to help more families make informed decisions about genomic testing.

This counselling model, as an alternative to in-person appointments, helps fill the gap in the availability of genetic counsellors across Canada. It also frees up genetic counsellors to spend more time with families after they get results to help them understand and adapt to the information. Developed in British Columbia, DECIDE is an adaptable solution available to benefit families nationwide.

DECIDE users shared valuable feedback on their experience using DECIDE

  • A very logical non-emotional pathway to [a decision].
  • If we could do stuff online and not have to make a trip in all the time for things, yeah, that would be great (from someone living a distance from the hospital).
  • [DECIDE] does make it easier, yes. Especially when you have other kids…
  • I think with this type of tool, and it’s online, you can do it at your leisure. And you can go back to it and look at it again, and… “Oh yeah, that’s what they meant.” I think it’s incredibly helpful.
  • I would show it to friends, family [to] give people an idea as to what’s going on and how things are.

Resources

  1. Birch P, Adam S, Bansback N, Coe RR, Hicklin J, Lehman A, Li KC, Friedman JM. (2016). DECIDE: a decision support tool to facilitate parents’ choices regarding genome-wide sequencing. Journal of Genetic Counseling.
  2. Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM. (2019). Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions. Journal of Genetic Counseling.
  3. DECIDE
  4. GenCOUNCEL twitter
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