At some point in life, everyone will seek medical attention for themselves or a loved one. Often, the cause for concern isn't immediately clear, marking the beginning of what could be a rare disease journey. Each year on the final day of February, Rare Disease Day raises awareness for these individuals and their experiences.
As genetic counselors, we play a vital role in finding answers. According to RareDiseaseDay.org, over 300 million people live with rare diseases, with 72% having a genetic basis and 70% diagnosed in childhood. Collectively, rare genetic diseases are not so rare at all.1
Working in pediatric genetics means partnering with parents to address their concerns while ensuring their child receives optimal care. This typically involves genetic testing, which has advanced significantly over the past decade. Exome sequencing (ES) has become increasingly common, but its success relies heavily on interpreting results in context of the patient’s phenotype, which means their symptoms and history. Providing this information enables the lab to accurately prioritize and interpret genetic variants from ES, leading to improved result accuracy.
One of our key challenges lies in gathering complete information. Children can't always advocate for themselves, and parents may not have all medical details readily available during appointments. Our solution? We use Progeny, which is clinical genetics software that acts as our genetics hub.
We send a custom questionnaire to a patient’s parents ahead of their appointment, allowing them to submit medical information and family history. This is less stressful for parents as they can complete at their convenience. It also means I often get access to more complete, accurate information. With phenotype-directed testing like ES, this is invaluable.
Parents often describe their path to diagnosis as an odyssey, moving from specialist to specialist across multiple institutions before reaching genetics. Medical records become scattered, with various clinical impressions along the way. As genetic counselors, our mission is to ensure these families are heard and their concerns are clear. Progeny allows us to better manage this complex information flow. It streamlines everything from family-submitted information to pedigree building to call logs. We can even order Ambry genetic testing directly through Progeny. This efficiency allows our entire team to better prepare for appointments and, most importantly, gives us more time to slow down and truly listen to families. Using fewer systems is also faster and easier, which helps us better use our time outside of appointments.
Our use of technology to improve our daily workflows in and out of clinic has led to real progress in how we support rare disease patients and their families.
As we commemorate Rare Disease Day, it's important to remember that behind every case is a family seeking answers. By streamlining our processes and documentation, we can focus on what truly matters – providing support, understanding, and hopefully answers to families affected by rare diseases. While the path to diagnosis may still be complex, we're committed to making each step of that journey a little clearer and more manageable for the families we serve.
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