Rare Genomics Institute

Through RG, qualified candidates can be a part of the era of personalized medical programs based on genomic sequencing. Families in need will get a chance to find answers and the knowledge provided will accelerate biomedical research innovations and personalized medicine. The following steps are the patient-centered model for connecting with sequencing services: Step 1: Connect with RG After emailing, you will receive a link to an application form. This form will determine whether you are a good fit for RG’s services. The application asks that you provide relevant medical information and consent for RG to share the information with physicians in our network. Step 2: Talk to a patient advocate You will be assigned a patient advocate, who will usher you through the entire research process and will be your point of contact within RG. Your patient advocate will contact you to set-up an informational phone call. This call is designed 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 is meant to make sure you understand the RG process and help match you with the most fitting research site. Each site has different requirements, contacts, costs, and specifications. Once you are assigned a site, your patient advocate will guide you through the next steps. Note: When determining the site for you, we consider site availability and your location. For example, some sites already have a long waiting list of patients. We try to choose a site that is readily available and is also close to you. Step 3: Preparation before visiting the research site Discuss With Others: Genome Sequencing is an important decision, we recommend discussing your decision with friends, family, and significant others. Gather Records: Please obtain all relevant medical records from all the physicians the patient has visited. This is essential to determine eligibility and analyze genetic results. Make an Appointment: You must make and keep your appointment with the clinical geneticist at the site. This is important because the clinical geneticist must determine eligibility for sequencing, and he/she will be involved in analyzing the sequencing results. Currently, the wait time for an appointment with a clinical geneticist in our network is 1-6 months, so we encourage our families to make their appointments as soon as possible. Note: The visit to the research site is a clinical visit. Most appointments are covered by insurance as a referral or a second opinion consultation. You should check with your insurance company to determine if a referral is required. RG does not cover this cost or travel expenses. Step 4: Your Research Site Visit At your visit with the clinical geneticist, he or she will determine if there is any clinical testing that should be performed before completing exome sequencing (e.g. gene panel, mitochondrial sequencing, microarray, etc). In addition, he or she will help determine whether you will be likely to benefit from whole exome or genome sequencing. This visit also serves as your opportunity to ask any medically related questions you may have. Note: If any sort of testing is determined applicable, whether a microarray or whole exome sequencing, samples for the test will be taken during your visit. Please be prepared to give blood or other forms of samples at your appointment. Additionally, though samples will be taken that day, no tests or sequencing will be performed until all test fees have been completely collected. There are additional RG branches around the world. Please view their contact information at the end of this pamphlet. Step 5: Service Payment / 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 the genetic sequencing and analysis of each family. We provide the following options to facilitate access to these technologies. Service Payment Options: Self-pay: Out of pocket payment is always an option. Though, this option is unrealistic for most families. Insurance: Not all sites accept insurance, and this is something we will take into consideration when matching you with a site. Crowdfunding: Crowdfunding is a fundraising platform to help you raise funds through our website. By creating a profile for your child, we allow people to directly donate to your genetic research. On this page, you can write a short summary of your child’s story and provide a picture if you wish. 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 not begin until the entire funds are raised for a project. Step 6: After sequencing In general, turn around times for exome sequencing average around 2-6 months, but in many circumstances, it may take longer. Depending on the case, further research might be necessary. 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 There are a variety of different possible outcomes from genetic analysis and the results can be returned in a variety of different formats depending on the site. Most likely, a physician familiar with the case will relay the results to you. In some cases, the results will look like a list of genes comprising variations of interest. The best case scenario is that a known variation in a known gene is identified, which points to a diagnosis or possible next steps. In another scenario one or more genetic variations are identified, but the meaning of the genetic variation is unknown. Currently, only ⅓ to ¼ of patients walk away from whole genetic testing with a new diagnosis. After diagnosis, patients could require substantial additional research before a possible clinical intervention is identified. Another potential outcome is that no genetic variations of interest are identified. In the later case, no diagnosis is reached.