· Sarah Gladstone, MD · Genetics 101
What role does condition navigation and advising play after a genetic condition finding?
Condition navigation and advising helps families understand a genetic diagnosis, identify appropriate medical care and monitoring, explore treatment and research opportunities, and develop a clear roadmap for next steps.
The “what now?” moment is different for every family that receives the news that their child has an increased risk of a genetic condition. For some families, it is a moment that feels like the future has changed in the blink of an eye. For some families, it’s a moment of incredible hope and relief, knowing that they finally have an answer. For some, it’s a moment of vindication… they knew something wasn’t right, and they finally have validation.
For most families, it’s a combination of all of these feelings. Thoughts are whirling and ideas are spreading out like the arms of a sea star in all different directions.
As a physician and rare disease parent, I was able to find some organization in the midst of this chaos relatively quickly. I had access to numerous specialists, including the ability to discuss the diagnosis and potential treatments with the world’s expert who happened to be a 3½ hour drive away. I was able to synthesize the medical information, jump into reading the literature, and start working on treatment development for a disease for which there was no treatment at the time. We were one of the luckiest unlucky families I know.
Most families realize they have the ability to face the next steps in some capacity. Whether it’s advocacy, fundraising, treatment development, or contributing historical data for a patient registry, there is a role for every family. The difficulty lies in knowing what their options are and understanding the pathway towards making their contribution.
This is where condition navigation comes in.
Understanding the Condition
Getting a new diagnosis can be overwhelming for many reasons, but sometimes just understanding the name and nature of the condition can feel impossible. That’s why we developed GeneSprout’s unique Condition Navigation program. A Condition Navigator can help explain the diagnosis in clear language, discuss how it affects the body, review the symptoms and progression that a family might expect, as well as the variability that can occur between different people. By focusing on a child’s specific genetic variant, a Condition Navigator can also help determine what a specific genetic variant might mean for the child.
Medical Management
One of the first questions caretakers might ask is who the best professional is to care for their child. Our Condition Navigators can help identify specialists or care protocols by reaching out to the people who care for children with the specific condition. A Condition Navigator can help connect families and their primary care providers to a specialist known to care for their child’s condition, both in the US and internationally. In this way, the family can be connected to the expert who can discuss the up-to-date treatment options, medications, and supportive care in addition to preventative measures and interventions to improve outcomes.
Early Action Opportunities
For many conditions, there are actions that can be taken before any symptoms develop. GeneSprout’s Condition Navigators can help determine whether early action can be taken, or surveillance protocols can be initiated to identify early symptoms or complications of a condition. There are also frequently lifestyle or nutrition interventions that can help change the course of a condition for the better.
Research and Emerging Therapies
For individual medical conditions there are frequently natural history studies, patient registries, and clinical trials available, but these can be difficult to find without a condition-specific established patient support system. Similarly, emerging treatments and recent research developments for a particular condition may not yet be published or available for the general public. By identifying the experts who care for people with specific genetic conditions, families can have opportunities to participate in research, clinical trials, and registries, and also understand potential up-to-the-minute therapeutic interventions.
Emotional and Community Support
For many families, getting started by connecting with an advocacy group is a best first step. GeneSprout’s Condition Navigators can help an individual or family with a referral to disease-specific foundations, and in this way, families are connected to others who have walked similar journeys and can provide emotional and practical support. Opportunities for fundraising and registries can also often be found through foundations and advocacy groups for individual conditions.
For many rare genetic conditions, condition advising and navigation serves as a bridge between genetic testing and action, transforming a laboratory finding into a personalized care plan and helping families understand the medical, practical, and emotional next steps available to them. A genetic diagnosis becomes the beginning of the roadmap rather than the end of the process, and Condition Navigation provides the support to smooth the way.