How We Help Patients
The RG Patient Process is designed to ensure the program is the right fit for our patients and families and to provide the best support possible for the benefit of all
Step 1: Connect with RG
After Contacting Rare Genomics Institute, 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 and researchers in our network.
Step 2: Talk to a Patient Advocate
You will be assigned a Patient Advocate, who will usher you through the entire sequencing 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 RG partner. Each RG partner has different requirements, contacts, costs, and specifications. Once you are assigned an RG partner, your Patient Advocate will guide you through the next steps.
Step 3: Connection to RG partner
Discuss With Others
Genome Sequencing is an important decision, we recommend discussing your decision with your physician, friends, family, and significant others.
Gather Records: Please obtain all relevant medical records from all the physicians the patient has visited. This is essential for the RG Partner to determine eligibility and analyze genetic results.
Make an Appointment
Depending on the site, you may be required to make and keep your appointment with your physician clinical geneticist. This is important because the clinical geneticist must determine eligibility for sequencing, and he/she will be involved in interpretation of sequencing results.
Note: 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.
You can view Rare Genomics Institute's partners here >
Step 4: Your Physician Visit
This may be done with your physician, geneticist, etc. This is required to be connected to one of our RG Partners. 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.) and whether you will be likely to benefit from sequencing. If you already have a physician that wishes to request sequencing, please tell your Patient Advocate and you may not need to make another appointment with your physician.
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: Waiting for sequencing results
In general, turn around times for exome sequencing average around 2-6 months, but in many 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
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.
Step 8: After sequencing
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.
RG also maintains the right to access and use of de-identified results from your case in order to report success and encourage collaboration. In this way, RG can help more families like yours in the future.
Depending on the case, further research might be necessary. RG has a new pipeline called Science 2.0 where our Science Team to evaluates the potential of studies specialized to your case and connects you with our extensive network of affiliated researchers. To participate in Science 2.0, we require that each family upload all medical information to their PKB account for evaluation from our Science Team. These are crucial in determining eligibility for additional research studies.