What is RareREACH and how can we help you?
RareREACH (Research, Education, Advocacy, Community and Hope) is an innovative program, developed by RG, which places patients at the center of finding a cure. Our Patient Advocacy Team works directly with patients, caregivers, and referring physicians to guide and coordinate whole exome and whole genome sequencing with partnering RG laboratories. RG has partnered with 8 sequencing sites to provide our patients with whole exome sequencing (WES).
However, 75% of patients who undergo WES do not receive a genetic diagnosis due to the rarity of their condition and an incomplete understanding of the functional significance of genomic variants. RareREACH addresses this issue by combining in-depth analysis of genetic and medical data for each patient, which is not provided by physicians, genetic counselors, or sequencing services. Our research model involves crowdsourcing from our global network of scientists, cloud collaboration, adoption of state of the art computational systems, and utilizing the unique expertise of our in house scientific team to provide actionable insights into each case.
We have reached a total of 400 patient inquiries. We have coordinated sequencing for 40 patients, achieved funding for 27 and provided analysis for 12 patients through our research initiative, RareREACH. We have successfully arrived at a diagnosis for 6 patients and defined 2 new genetic disorders.
We have also successfully connected our patients to external research experts for follow up studies, recommended clinical trials for a few, and identified a second family with similar conditions for a case. Initial results show that our approach can increase diagnostic yield for rare diseases from 25 to 50%.
We understand that the results of sequencing alone might leave a patient overwhelmed. RareREACH addresses this issue by taking sequencing a step further. Here is a bird’s eye view of what we do to help our patients:
To enhance patient experience with RareREACH, we have partnered with Patients Know Best, an innovative, secure, patient controlled online platform. The Patients Know Best portal allows patients to connect with an global network of researchers and clinicians. Patients who participate in RareREACH have their medical and genetic data uploaded to the platform. By leveraging the power of a platform like Patients Know Best the rare disease community is better able to share data and connect with researchers around the world, and ultimately, creates a better chance at finding cures.
Scientific reports including recommended next steps are returned to the patients and published on our online forum for further research and collaboration. Our research model is helping to meet a crucial need for rare disease patients and demonstrates that exome sequencing coupled with in depth analysis, leveraging medical history and global collaboration can be deeply insightful. Our patient centric strategy has eight main steps:
Step 1: Connect with RG
After contacting Rare Genomics Institute, you will receive a link to an application form. This form will help us suggest a personalized RG service that would be most beneficial for your case. The application asks that you provide relevant medical information and consent for RG to share the information with physicians and researchers within our network.
Step 2: Talk to a Patient Advocate
You will be assigned a Patient Advocate, who will be your personal guide through the entire process and will be your point of contact within RG. To start with, your Patient Advocate will contact you to set-up an informational phone call to educate you about the process and answer any questions you may have in real time.
After the call, you will be asked to fill out a follow-up form. This form helps you familiarize with the RG process and helps us find you the most fitting RG partner. Each RG partner has different requirements, costs, and other specifications. Once you are assigned an RG partner, your Patient Advocate will guide you through the next steps.
Step 3: Your Physician Referral
In order to get connected to an RG partner, you need to have a physician that wishes to request exome or whole genome sequencing. This is important because the clinical geneticist must determine your eligibility for sequencing, and he/she will be involved in interpretation of sequencing results. They can also determine if there is any clinical testing that should be performed before completing exome sequencing (e.g. gene panel, mitochondrial sequencing, microarray, etc.) and whether you are likely to benefit from sequencing.
Note: Most appointments are covered by insurance as a referral or a second opinion consultation. You should check with your insurance provider to determine if a referral is required. RG does not cover this cost or travel expenses.
Step 4: Connection to an RG partner
Once your Patient Advocate receives confirmation from your physician that they wish to request whole exome and whole genome sequencing, they will give you the necessary requisition forms and sample shipping information needed to request sequencing with the RG partner laboratory. They will also work with your physician and the RG partner to ensure the materials and samples are collected, sent to and received by the RG partner in a timely manner.
Step 5: Funding for Research
As a non-profit organization, RG strives to provide access to cutting edge technologies. Unfortunately, we do not currently have the funds to pay for genome sequencing and analysis for every family that is registered with us. However, we provide the following options to all of our patients who wish to access these resources:
*Self-pay: Out of pocket payment is always an option.
*Insurance: Not all RG partners accept insurance. This is something we will take into consideration when we match you to an appropriate partner.
*Crowdfunding: At the core of what we do at RG, we strive to provide access to genomic sequencing for families that are unable to meet these costs with their own resources or insurance. Our patient advocacy team assists families in raising funds, through grants and sponsorship to pay for sequencing. Our patient advocacy team also helps families to create impactful crowdfunding pages with a story of the patient's journey, their picture and anything else the family would like to share. Anyone willing to make a donation can directly do so, through your crowdfunding page. Donations are entirely used to pay for a patient's sequencing and are tax-deductible- RG does not charge any fee for our services. Though we have been successful with most of our fundraising campaigns, we have learned that in order to achieve success you must be proactive in utilizing not only your network of friends and family but also your extended network.
Note: Sequencing will begin once the entire funds for a project have been raised
Step 6: Waiting for sequencing results
In general, turn around times for exome sequencing averages around 2-6 months, but in some circumstances, it may take longer. Your Patient Advocate will strive to update you on the latest progress. If you have any questions during this period, feel free to contact your Patient Advocate.
Step 7: What to expect from sequencing
Once results from your sequencing are available, RareREACH leverages an expert team of scientific analysts that delve deeper to find out what your results mean and most importantly, how they could be utilized to benefit your case. We use your medical history along with data from sequencing to build a comprehensive report that outlines a connection between your results and possible links to a rare disease. This report is designed with the following sections in order to help you and your physician better understand your case:
a) Summary of your history
b) Hypothesis & possible diagnosis (if applicable)
c) Description of similar cases, including missing symptoms
d) A list of potential genes or biological pathways that may be involved in the etiology/progression of disease.
e) Advice on future directions (including additional analysis, medical testing, and recommendations from researchers on clinical trials)
There are a variety of possible outcomes from genetic analysis. The best-case scenario is that a known variation in a known gene is identified. This eventually leads to diagnosis and appropriate future directions for a patient. In an alternate scenario, one or more genetic variations are identified, but the meaning of the genetic variation is unknown. Another potential outcome is that no genetic variations of interest are identified. In the later case, no diagnosis is reached. Sometimes, after diagnosis, patients could require substantial additional research before a possible clinical intervention is identified.
Currently, 25 to 30% of patients who undergo genome sequencing receive a diagnosis.
Step 8: A personalized medical research platform
Once results are obtained, our RG site will share the results with you via our medical information-sharing platform called Patients Know Best (PKB). We will invite you to set up a PKB account on the site, and from your account you can access the results once they are posted. In order to secure each account, we have several measures in place, such as driver’s license identification, to ensure privacy and adherence to HIPAA.
We understand that as a patient/donor of your clinical, pathological and sequencing information, you hold the right to make this information available to us in order to help you. Once a patient’s information is available on the portal, our team of expert researchers and scientists will analyze the available information and provide pro-bono consulting on each case. Rare Genomics’ multidisciplinary expert team includes 50 advisors sourced from top universities and other organizations including:
- Harvard University
- Stanford University
- UC Berkeley
- National Institutes of Health
- Jackson Labs
- Coriell Institute
Our scientists will evaluate the specifics of your case such as existing literature on the candidate gene(s) that show up in your sequencing results, current/previous clinical trials relevant to the condition and connect you with our extensive network of affiliated researchers. Throughout the entire process, you will be assigned a Rare Genomics patient advocate and a Rare Genomics Scientist to manage your case and serve as your personal point of reference with Rare Genomics.
RG also maintains the right to access and use de-identified results from your case in order to encourage research collaborations, by way of which we can help more families like yours in the future.
RareREACH can help you find a diagnosis and possible treatments for rare diseases. Read the stories of some of our patients:
Maya’s a preteen who loves Meghan Trainor and Taylor Swift. In 2014, Maya was diagnosed with a rare disease called Atypical TPP1 Deficiency (SCAR7) after losing motor skills and coordination. At the time of her diagnosis, Maya was one of only eight reported cases in the world. Maya and her family reached out to the Rare Genomics Institute (RG) for support.
RareREACH analysts found a possible cause of SCAR7, which is a milder form of late infantile neuronal ceroid lipofuscinosis (LINCL). RG connected Maya to an ongoing clinical trial at Cornell University researching therapeutic enzyme replacement. RareREACH analysts also found that an existing drug may be able to treat some of the symptoms of LINCL. Maya’s condition has improved after using this existing drug.
Sabrina is 10 years old and enjoys writing and drawing, but these activities are becoming difficult for her. She also loves horses but cannot ride them, so she draws pictures of them and imagines riding them. Before enrolling in RareREACH, Sabrina was diagnosed with spastic diplegia, a form of cerebral palsy. She had gone through many medical tests, including whole exome sequencing (WES). However, no results supported her initial diagnosis.
RareREACH analysts reviewed her case and wrote a report recommending screening for newly discovered genes that are associated with hereditary spastic paraplegia. After reading this report, an expert panel of researchers from RG suggested whole genome sequencing (WGS) and presented other genes that could be associated with her condition.
Balazs is a rambunctious 6 year-old. He started having severe seizures when he was a baby. During these seizures, he could not breathe and his lips turned purple. He also has a weakened immune system, low muscle tone, and developmental delays. Balasz’s symptoms presented with mitochondrial dysfunction, acidosis, and carnitine deficiency. Balasz and his family had their exomes analyzed, but the results were inconclusive.
RareREACH analysts noted a complicated basis for Balasz’s condition and suggested possible diagnoses of Pitt-Hopkins syndrome or Duchenne muscular dystrophy. The analysts also gave options for Balasz and his family in pursuing medical care.
Windsor is a 23 month-old girl who loves music and playing, and in her mom’s words, “...she never ever gives up.” Windsor has a muscular condition called hypotonia. When she was born, she was too weak to move her body. Now, she can sit up herself and is starting to crawl. Even though Windsor is blind, she loves to explore by rolling around, and she keeps track of where her favorite toys are. Windsor also has other confusing symptoms that are not usually found together. Her family doctor suspected Donnai-Barrow or Sensenbrenner syndrome. After extensive medical testing, Windsor and her family came to RareREACH with no clear diagnosis.
An initial review of Windsor’s case by RareREACH analysts didn’t reveal convincing evidence for either syndrome suggested by her family doctor. A detailed analysis of all the genetic sequencing information taken in the context of Windsor’s symptoms led to the identification of IFT140 as a candidate gene. IFT140 is linked to Jeune syndrome, a disorder that was mentioned before to Windsor and her family but never confirmed. RG also found overlap between the symptoms of Sensenbrenner and Jeune syndromes in scientific literature. RG’s findings were sent to Windsor’s family doctor so Windsor can receive follow-up care.