Turner Syndrome Foundation
One of the many things the COVID-19 pandemic has taught us is the importance of scientific research. Without research, we could not solve many health questions, like how to help treat people with rare conditions like Turner Syndrome (TS) during the pandemic. Whether you’re a medical professional, researcher, or patient, it is important to contribute to research however you can. To this end, the Turner Syndrome Foundation (TSF) has launched a new initiative, the TS Research Exchange Patient Insight Network (TSRX-PIN). To learn more about contributing to TS research, read on!
The TSRX Patient Insight Network
This post provides an informational overview of TSRX-PIN, an initiative that provides an easy way to contribute to TS research. This information is from TSF’s webinar “Participating in TS Research: Invitae Patient Insight Network,” presented by Invitae’s Program Manager, Brittany McLarney.
"Research is creating new knowledge."
The Importance of TS Research
TS research is important because it expands the volume of knowledge and information about the condition. Research allows us to improve care for future patients of TS by ensuring that all people fully understand the condition.
To contribute to this research, TSF has partnered with leading medical genetics company Invitae to create the TSRX-PIN, a patient-centered registry. This new registry is different from TSF’s Turner Syndrome Patient Registry, which aims to provide direct personalized resources and advocacy for the TS community.
About Invitae
Invitae is a leading medical genetics company that aims to bring complex genetic information into mainstream medicine to improve healthcare. Its main goal is to make genetic testing, a tool used in the detection of conditions such as TS, more accessible by lowering patient costs. TSF and Invitae’s Patient Insight Network (PIN) program will help newly diagnosed patients stay informed and engaged at every step of the way in their TS journey.
TSRX-PIN will make enrollment in TS research studies faster, identify patients who might benefit from approved therapies, and make treatments more widely available.
How TSRX-PIN Works
TSRX-PIN is not a traditional registry. Its goals are to:
- collect, curate, coordinate, and deliver patient data to the researchers more efficiently;
- connect patients with opportunities for clinical trials, research studies, and treatment;
- welcome patients to an inside network and engage with the international TS patient community; and
- help protect patients’ privacy by collecting anonymous data needed for clinical study planning and execution.
TSRX-PIN accomplishes these goals through its connection to other PINs. So, if there’s a study happening that is appropriate for multiple conditions, researchers can access the data portal, pull the anonymous data, and compare it to other data. Patients seeking study, treatment, and clinical trial information can do the same.
And you don’t have to worry about the privacy of your medical information! You can update your consent for the use of your data at any time on the TSRX-PIN homepage.
Why Should I Participate in the Research?
Participating in TS research is something only patients with the condition can do. So, individuals with TS are very valuable to research that can help increase early diagnosis, earlier intervention with available treatments, and the quality of treatments. All of this leads to better lifelong outcomes for TS patients.
Even if you are not a patient, you can still encourage those with TS to sign up for TSRX-PIN to help their community.
Setting Up a TSRX-PIN Account
- First, you will need to register and set up your account here. The website will ask you for your basic information. If you are a parent registering your child with TS, you (the parent) “own” the account, while your child just uses it. However, you can switch it back over to your child later. Also, if you have multiple people in the family with the condition, you can register them through the “Family Members” feature after your initial registration.
- Next, the website will take you to the main page of your account.
Using Your TSRX-PIN Account
Your account page will allow you to create your profile, learn more about TSRX, and share links with others for them to join the community.
- One of the most important things on your page is the health surveys linked to your account on the dashboard. The questions in these surveys will cover specific topics. You might see similar questions in different places, but know that they are trying to answer a different research question each time. Also, you might be asked to take the same survey multiple times to see if any of your challenges have changed. With this information, TSRX-PIN will be able to understand the severity and frequency of health challenges faced by members of the TS community.
- You do not have to finish the surveys all at once. You can complete a page and click “Next” to save your progress and come back later. However, you cannot go back to the previous page to change your responses.
- If you have any issues or accidentally enter the wrong answer, contact Invitae at coordinator@pin.invitae.com.
- After you have completed a given survey, you will be taken to a “Participant Map.” It will show you the responses that others gave for similar questions and allow you to compare your answers with theirs. All the responses are anonymous, so you will only see the total number of people who picked a certain response to a question. Currently, it is not possible to see how the data from the participant will be used due to the barriers to accessing and understanding the research. However, Invitae is working on this issue.
Takeaway - What You Can Do Now
- Through TSRX-PIN, we can promote the voices of people with TS and move forward so that future generations have more healthcare resources and better health outcomes.
- If participants have recommendations for survey questions in the registry, they can email them to TSF at registry@tsfusa.org.
- You can also watch the free webinar recording here for more information about TSRX-PIN.
Written by Dhruvi Patel, TSF volunteer blog writer. Edited by Ruchika Srivastava, TSF volunteer blog editor, and Susan Herman, TSF volunteer lead blog editor.
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