HOW GENERATIONTM WHOLE GENOME SEQUENCING WORKS

See how it works and how it can benefit your family.

Whole Genome Sequencing can help identify health problems even before symptoms appear.

How to Order Whole Genome Sequencing


1. Visit the Generation Store 

The diagnostic DNA test can be ordered for anyone in your family, including newborns from the Generation Store. The test requires a small saliva sample. For a child whose cord blood is stored with ViaCord, you may elect to perform the test using your child's dried blood spot sample already stored at ViaCord's Processing Laboratory instead of providing a saliva sample.   

2. Complete & Submit:  

Follow instructions provided in your kit and mail everything indicated as required back to our lab using the prepaid package within 30 days of receiving the kit. You can expect to receive your whole genome sequencing kit approximately 3-5 business days after placing your order.  
 
3. Sample Processing: 

Once your completed kit arrives at our lab, DNA will be extracted from the sample and sequencing of the genome will be performed using next generation sequencing (NGS) technology. A diagnostic DNA report will be sent to your ordering physician approximately 8-10 weeks after our lab has received your kit. We will send you an email to let you know results have been sent to your physician.  
 

What is reported when the test is performed on children?

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Our GenerationTM Whole Genome Sequencing will look at 2,000 - 2,500 disease associated genes affecting children under the age of 18. In the event there is a positive finding, the test will show the following:
  • Diagnostic findings related to disease: Genetic variants believed to be disease-causing (pathogenic and likely pathogenic variants) are responsible for contributing to infantile and pediatric onset diseases. These diseases include Cardiomyopathy & Muscular Dystrophy. 

  • Pharmacogenetic variants:  Pharmacogenetic variants are changes in the DNA that do not cause a disease but may be related to how your child's body processes certain medications, such as anticoagulants. These variants may not be valuable now if your child is not taking the medications, but in the future this information could prove invaluable in providing your physician insight into how well certain medications will work or if your child could experience serious side effects from the medications.

The results of the testing are confidential and may not be released to anyone without your written and informed consent except as permitted or required by law. Generation™ Whole Genome Sequencing Testing results performed by PerkinElmer Genetics, Inc., will be submitted to your ordering physician. 

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What is reported when the test is performed on adults ages 18+?

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Our GenerationTM Whole Genome Sequencing will look at approximately 6,000 genes that could cause disease. In the event there is a positive finding, the test will show the following:

  • Diagnostic findings related to disease: Detects variants in known disease-associated genes or variants in genes that have not yet been associated with disease. In adults, these diseases include Hereditary Breast Cancer and Ovarian Cancer and Lynch Syndrome. 

  • Pharmacogenetic variants: Pharmacogenetic variants are changes in the DNA that do not cause a disease, but may be related to how your body processes certain medications, such as anticoagulants. These variants may not be valuable now if you are not taking the medications involved, but, in the future this information could prove invaluable in providing your physician insight into how well certain medications will work or if you could experience serious side effects from the medications. 

Additionally, adults over the age of 18 may elect to receive information on: 

  • Carrier Status for Autosomal Recessive Conditions: A recessive condition is when two pathogenic variants in the same gene are required in order to show symptoms of the disease (one variant is inherited from each parent). Someone who has only one pathogenic variant does not show symptoms and is called a carrier. An example would be cystic fibrosis. You can choose whether or not you want us to report your carrier status. 

  • Diagnostic findings in adult onset medically actionable disorders: Medically actionable conditions are those for which there is currently recommended treatment or preventative actions that can be taken to reduce the risk of developing the disease. An example would be hereditary cancer syndromes such as hereditary breast and ovarian cancer syndrome (HBOC caused by mutations in the BRCA1 and BRCA2 genes). 

  • Diagnostic findings in adult onset currently medically non-actionable disorders: Conditions that are not currently medically actionable do not have recommended treatment or preventative measures that can be taken to reduce the risk of developing the disease. An example would be Alzheimer's disease. 

The results of the testing are confidential and may not be released to anyone without your written and informed consent except as permitted or required by law. Generation™ Whole Genome Sequencing Testing results performed by PerkinElmer Genetics, Inc., will be submitted to your preferred ordering physician.

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QUESTIONS? WE'RE HERE TO HELP.

To learn more, give us a call at 866-565-2237.

FREQUENTLY ASKED QUESTIONS

Preparing your family for the best healthcare outcomes for a lifetime is easier than ever before with GenerationTM Whole Genome Sequencing. We know this is a big decision, and you're likely to have a lot of questions.

Click on a topics below to open FAQs. Don’t see your answer? Give us a call.

Generation Whole Genome Sequencing

  1. What is Whole Genome Sequencing?

    Whole genome sequencing is the process of mapping out the entire DNA sequence of a person’s genome.

  2. What is GenerationTM Whole Genome Sequencing?

    GenerationTM Whole Genome Sequencing is a test that can identify many health problems like inherited cancers, genetic disorders and more even before symptoms begin.

  3. What is personalized medicine and how does it relate to whole genome sequencing?

    Personalized medicine, sometimes referred to as precision or individualized medicine, is an evolving field in which healthcare professionals use whole genome sequencing to determine which medical treatment will work best for each patient. By combining the data from whole genome sequencing with an individual's medical history, healthcare professionals can develop targeted treatment and prevention plans, which may utilize your child's stem cells.

  4. What are some advantages of having a GenerationTM Whole Genome Sequencing & personalized medicine?


    Advantages of whole genome sequencing & personalized medicine:
     
    1. Proactive health management: Healthcare professionals will have the information they need to assess predisposed conditions and make recommendations for personalized preventative treatment plans. 

    2. Better course of action: Healthcare professionals will look at the DNA blueprint to determine whether a specific treatment will work or approach a condition with a solution different than the standard ‘one size fits all’ approach. 

    3. Fewer negative side effects to treatments: Better patient outcomes by reducing the risk of reacting poorly to ineffective treatments.
  5. Why should you consider GenerationTM Whole Genome Sequencing?

    Today GenerationTM Whole Genome Sequencing helps healthcare professionals and their patients move towards early detection, disease prevention and personalized medicine, instead of treating symptoms after disease occurs. You should consider whole genome sequencing for the following reasons: 


    1. Make smarter healthcare decision
    2. Early detection + prevention 
    3. Higher treatment success rate + reduction in future healthcare costs 
    Learn more »
  6. Who can the GenerationTM Whole Genome Sequencing test be performed on?

    The GenerationTM Whole Genome Sequencing test can be performed both on children and adults. By understanding the conditions for which you may be at risk, you can take steps to improve your health even before symptoms begin with early intervention and a personalized treatment approach.

    Learn more »

Process

  1. What does the GenerationTM Whole Genome Sequencing test require?

    The GenerationTM Whole Genome Sequencing test requires either a saliva or dried blood spot sample.

  2. When can I expect to receive my Generation TMWhole Genome Sequencing Order?

    Your GenerationTM Whole Genome Sequencing order will ship via USPS first-class mail 2-3 business days after payment for order has been submitted.

  3. How long does it take to receive my results?

    Once your sample arrives at our lab, our laboratory experts will process the sample using our state-of-the-art sequencing technology. 6-10 weeks later, PerkinElmer will return test results to the healthcare provider(s) indicated in Customer’s Test Requisition Form. Please see the section on “Test Results” below for additional information on test results. You will receive an email when the test results have been sent to the ordering Healthcare Provider. After you receive the email, please contact the ordering Healthcare Provider listed on the Generation Test Requisition as the Healthcare Provider is responsible to review patient testing results.

  4. What does the Generation Whole Genome Sequencing test look at?

    In the event there is a positive finding, the test will show the following:

    1. For children under the age of 18, PerkinElmer will look at 2000-2500 disease-associated genes affecting children up the 18 years of age. 
    2. For adults, PerkinElmer will look at approximately 6,000 genes that could cause disease.

  5. Who will receive the testing results?

    PerkinElmer Genetics will return test results to the healthcare provider(s) indicated in Customer’s Test Requisition Form. Test results are confidential and may not be released to anyone without Customer’s written and informed consent, except as permitted or required by law.

Billing

  1. When will I be charged?

    When Customer submits payment information, customer will pay PerkinElmer $1,900 per patient to be tested, either in a single payment upon submission of payment information, or in equal periodic installments according to the payment plan Customer selects.

  2. How do I cancel or change something on my order?

    Customer may change or cancel an order only until PerkinElmer receives Customer’s sample(s). The change or cancellation fee is $150. If a cancellation request is received after PerkinElmer has received Customer’s sample(s), Customer is responsible for full cost of testing and no refund will be provided. If you choose to change or cancel your order, please email generation.changeorder@perkinelmer.com with the following information:

    Full Name
    Date of Birth
    Collection Kit Number
    Order Date Order Number 

    Please allow 2-5 business days for our Customer Care Team to review your email and respond back.

Data Confidentiality

  1. What is the Genetic Information Nondiscrimination Act (GINA)?

    GINA is a federal law that protects individuals from genetic discrimination in health insurance and employment. 

    Genetic information protected by law includes family health history, results of genetic tests, use of genetic counseling and other genetic services and participation in genetic research.

    To learn more about how GINA protects individuals from the misuses of genetic discrimination, click here.   

  2. Will PerkinElmer use my personal information or data from whole genome sequencing?

    PerkinElmer will not use or provide your personal information or the data from Customer’s whole genome sequencing to any third party, unless (1) Customer has given consent for such use or disclosure, or (2) the use or disclosure is required by law, including a subpoena court order, or order of another governmental body of competent jurisdiction. PerkinElmer may share Customer contact information with a third-party vendor for purposes of processing communications regarding Generation™, and any such vendors will be bound by confidentiality requirements prohibiting them from using Customer information for any purpose other than processing such communications.

    Test results are confidential and may not be released to anyone without Customer’s written and informed consent, except as permitted or required by law. PerkinElmer will provide test results only to Customer’s ordering healthcare provider.