MyGene2: Offering whole exome sequencing directly to families. Apply now!

September 8, 2016 9:43 pm 1 Comment 9

MyGene2 is currently offering $825 for CLIA-certified whole exome sequencing (WES) right now! This is an incredible opportunity for families with a rare or undiagnosed disease! You will be able to own your data and share it with anyone you want!!! I cannot stress enough how important this is to the rare community. We need to have everyone to get sequenced and have their data in MyGene2!  Check it out now!

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Share, Unite and Discover

MyGene2 is a free, public, searchable site developed by families with rare conditions, clinicians, and researchers to openly share health and genetic information with one another by creating ”family profiles.”  This makes discovering the genetic basis of rare conditions and their diagnosis easier.

Offering whole exome sequencing –
click here for details

Benefits of sharing on MyGene2

  • Find a genetic diagnosis for your family
  • Help other families find a genetic diagnosis
  • Match with other families with the same condition
  • Contact other families with the same condition
  • Share health and genetic data (variants of unknown significance, candidate genes, VCF files, etc.) directly with other families, clinicians, researchers
  • Free reanalysis of shared exome data
  • Receive matches to your profile automatically
  • Directly engage doctors and researchers as a citizen scientist

Research exome sequencing

Families with Mendelian conditions who lack a precise genetic diagnosis often get exome sequencing results or “raw” sequencing data (e.g., VCF and BAM files) as part of an evaluation by a physician (i.e., clinical testing) or by participating in a research project. Some families who create MyGene2 profiles also consent to participate in a research project known as the University of Washington Repository for Mendelian disorders (UW-RMD). A small number of families that participate in the UW-RMD are selected for exome sequencing to be done for free by the University of Washington Center for Mendelian Genomics (UW-CMG). However, most families do not meet the eligibility criteria for free sequencing. Families not selected for sequencing by the UW-CMG, can now opt to pay a fee ($825 per sample) for research exome sequencing done in a Clinical Laboratory Improvement Amendment (CLIA)-certified lab. This cost includes a saliva collection kit, DNA extraction, shipping & handling, payment processing and return of a report of primary findings (e.g., a causal variant for your condition) and sequencing data. If no primary finding is identified, your candidate genes and variants will be uploaded to your MyGene2 profile for sharing with other families, clinicians, and researchers. You can search your sequencing data for secondary findings (i.e., variants unrelated to the primary diagnosis such as medication response) using tools provided by MyGene2. It will take 8-12 weeks from receipt of sample to receive results.

Are you or your family eligible?

  • A person or their family must have or be suspected to have a rare genetic condition
  • The family member completing the application for exome sequencing must be 18 years or older
  • You must create a family profile in MyGene2 so some basic health information and genetic data (e.g., primary result, candidate variants) will be public
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What you can expect

  • $825 for CLIA-certified whole exome sequencing
  • Written report of primary results delivered in 8-12 weeks
  • Return of variant and sequence data (VCF and BAM files)
  • Easy to use tools to browse variants by gene or condition
  • If a primary result is found, it will be automatically added to your MyGene2 profile
  • If no primary result is found, re-analysis and upload of candidate genes to your MyGene2 profile
  • Option to share sequence data (VCF and BAM files) to your MyGene2 profile

Read about sequencing details

How to obtain exome sequencing

  1. Register for a MyGene2 Account
  2. Create a family profile – you must share some information such as your story or basic health information
  3. Consent to participate in the University of Washington Repository for Mendelian Disorders (UW-RMD)
    • Each person for whom sequencing is requested must complete a consent and agree to public sharing of candidate genes and variants
  4. Complete an application for whole exome sequencing
  5. Provide shipping instructions
  6. Submit application to MyGene2
  7. You will be notified by email within 1 week whether sequencing is approved
  8. If approved, you will be sent a link to submit payment information
  9. Once payment is processed, a saliva collection kit will be shipped to your address
  10. Provide a saliva sample(s) using the kit provided and return to MyGene2 (Click here to see how to provide a saliva sample)
  11. You will be notified via e-mail when your results are available in 8-12 weeks
  12. Login to your MyGene2 account to view your results