Rare Disease Day focuses awareness on research, treatment, and advancements for these conditions

February 28 is Rare Disease Day. Monica Wojcik, MD, MPH, a neonatologist and clinical geneticist at Boston Children’s Hospital, speaks with Rare Disease 360 about the importance of recognizing rare conditions and how “the earlier you can recognize, diagnose, treat, [and] start to manage many rare conditions, hopefully that leads to better outcomes.”

Question:

February 28 is Rare Disease Day. What is the importance of focusing a day of recognition and awareness to bring attention and understanding to the rare disease community and also the public at large?

Monica Wojcik, MD, MPH:

It’s a great question. I think it is so important to have increased recognition in general of rare conditions, and there are so many of them. We like to say in rare disease, that many of these conditions are individually rare but they’re collectively common. Yet many families and people who are affected by rare conditions feel overlooked. It’s nice to have a day where we can really focus exclusively on all of these rare conditions, and really get excited about new developments and therapies that we hope will help families moving forward.

Question:

How important is genetic testing, particularly as early as possible for known rare conditions, specifically those that have potential treatment or management options?

Monica Wojcik, MD, MPH:

Well, there are many ways to arrive at a rare disease diagnosis. Before we had really broad genetic testing like exome or genome sequencing, a lot of these diagnoses were made by clinically, by clinical suspicion. As we’ve expanded our use of testing, we’ve found not only many more conditions that we didn’t even know exist, but we’ve been able to really much more precisely identify which conditions people have, what’s running in their family. The use of diagnostic genetic testing is really critical to pinpoint that actual condition that a family or a person might have.

Additionally, in thinking about therapies, many of the therapies that are available are particular to a certain condition, or even to a certain type of variant in a gene that causes a condition. Unless you know exactly what you have and what’s causing it, it can sometimes be very difficult to access these precise therapies. Speaking to just the timing, I think we do advocate for trying to get access to these diagnoses as early as possible. Because we think that the earlier you can recognize, diagnose, treat, start to manage many rare conditions, hopefully that leads to better outcomes. As early as possible to try and recognize and get access to that testing that can pinpoint the diagnosis, I feel that that’s really the most helpful for most families.

Question:

What are some important advancements that have been made in recent years in diagnosing and managing rare conditions?

Monica Wojcik, MD, MPH:

Yeah, I already mentioned one of them. I think the use of exome and now more and more genome sequencing has really been transformative. Not only discovering new gene disease associations, but also allowing families to finally find the actual answer of what’s causing the condition or their symptoms. I think that that test, because it is so broad and because you can look for thousands of conditions at the same time, that’s really been transformative for many families. The other thing that is very exciting, especially in the last couple of years, are these gene-targeted therapies where there’s so many different new approaches to actually treating specific genes or specific conditions using these precision therapies.

It’s still not as far along as some other things, but it’s been amazing all the different advances that have happened in the past few years. I am really excited to see what the next 5 to 10 years will bring in terms of really targeted therapies for these ultra-rare conditions. I think that’s always been the promise of rare disease diagnosis is that we will find the condition that you have, and once we find it we’ll know what to do about it. Really until recently, there often haven’t been very specific therapies for certain conditions. I do think that’s rapidly changing, which is very exciting.

Question:

What are the needs and support required for infants or children diagnosed with rare conditions and their families?

Monica Wojcik, MD, MPH:

Well, it really varies by condition. I do think that many of these conditions are quite complex, and so resources for families to really understand what the condition is and how to manage it. Also, often for their doctors that are at the front lines taking care of them, their primary-care pediatricians or other providers, just being able to know what these conditions are. What are things we need to look out for, what do we do about it? Many of our families are juggling multiple specialties, multiple medications. This is really uncharted territory I think, for a lot of people, both patients and their doctors alike. Having access to good information and educational support surrounding the diagnosis is really critical. It’s similar to other complex conditions.

There are a lot of hurdles families have to overcome, not only to get access to testing, but also care that follows. Issues with insurance companies, travel to appointments, sick days, being in the hospital, These are all real challenges that can be very draining emotionally, financially. It’s a lot for many families to undertake. I think the healthcare system really can do a lot to hopefully support families. Then outside of healthcare, I do think there’s been so many amazing family advocacy groups, condition specific support groups. Many of which have organically grown through parents, patients, and their families.

I think those have been really, really powerful mechanisms of support for people, especially those with super rare conditions where there’s only a couple dozen people affected in the world. I think it really means a lot to families to be able to hear from others that have the same condition, and maybe going through the same experience. Those kinds of foundations or support groups are really transformative for rare conditions as well.

Question:

What are some areas of ongoing research around rare conditions that you are interested in or think others should know about?

Monica Wojcik, MD, MPH:

Well, my work focuses a lot on diagnostics. There are a lot of really amazing new diagnostic techniques that are being increasingly used. We are now transitioning to using genome sequencing to try to find some of those variants or changes that were not able to be found by exome sequencing or other technologies. Now we’re more and more using long-read genome sequencing to try to find variants that even though the short-read genome sequencing can’t detect. Then complementary where we say multiomic techniques like, using transcriptomics or RNA sequencing or metabolomics or other complementary diagnostic technologies.

To really all come together and understand what’s happening at the individual patient level, I think is really an important area and emerging area that there’s a lot of exciting research into. We always say that, depending on the number you quote 40T, 50%, so about half of people with rare conditions are still undiagnosed. What’s happening for that 50%? I think for many of these families, we feel there must be something there, we just haven’t found it yet. That’s where a lot of the research now is focusing on, is what are we missing? What can we still find? What do we still need to understand?

Question:

How can medical professionals collaborate domestically and globally to address the challenges of rare diseases?

Monica Wojcik, MD, MPH:

Collaboration I think is really critical in terms of being able to identify and address rare conditions in the best way. I keep mentioning these conditions are so rare that it would be impossible for one provider or even one institution to really comprehensively identify and see enough people with a certain condition to really make a meaningful impact. We really rely on collaboration across centers, not only nationally but internationally. To be able to more accurately understand what are the features of a particular condition.

Or if you have a gene that you’re interested in that you think might cause a rare disease, how do you know it’s causing what you’re seeing in your patient? One way we do that is trying to use resources like the Matchmaker Exchange to connect with people throughout the world, who might share a similar interest in a particular gene or condition. That contact and collaboration is really essential to moving the field forward. One of the things I love about this area is that rare conditions are certainly not something you can study in isolation. This ability to collaborate seamlessly is really critical to the underlying mission.

That’s, I think, one of the more rewarding things is just seeing how willing and happy people are to work together. If you have a gene that you’re interested in, and someone reaches out and is also interested, it’s a really great feeling to make that connection and to move forward together. I really think that’s a very special thing and unique thing about this field. Since we all know we have to work together, I think people tend to be very open and willing to share. I really love that about the fields. I think all, many of us, having worked with families who have these rare and often challenging conditions for so long, are very dedicated to trying to help them. Being able to connect with like-minded people and researchers is very rewarding.