About one out of every 33 people tested will learn they have an actionable genetic risk factor 1

Many people aren't aware that they carry a risk for an inherited condition, because they don't experience symptoms and may not have any family history of it. GenePrism tests for 59 genes that can significantly impact your health — empowering you to take steps towards more informed health choices.

GenePrism: Actionable Insights

by PerkinElmer Genomics

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Make impactful health decisions for you and your family by discovering your risk for inherited cancers, heart disease, and other health conditions you may not have already known about. Identified by genetic experts, these risk factors are designed to help you take proactive steps for your health, including disease prevention, early detection, and genetic counseling.

$299.99
Price includes $30.00 collected for an independent physician to review and determine whether the test is appropriate for you and for genetic counseling services.
To use this product, you must be 18 or older and be a U.S. resident. Not available for residents of Alaska or New York.
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Includes a DNA kit for first-time users.


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Knowing your risks can help you be more proactive about your health

We all have variations in our DNA—that’s part of what makes us unique. But some of us have risks for less common inherited conditions where early detection and knowledge have the potential to make a difference. Most people have no idea that they have such a genetic risk factor, and this testing is not yet a part of standard medical screening. Knowing one’s family history for disease is helpful, but not always the full story.

Even if you're healthy, you could be at higher risk for heart disease

A genetic condition called familial hypercholesterolemia (FH) can significantly increase your risk for coronary artery disease. With GenePrism, you'll learn whether you are at risk for FH so you and your doctor be proactive in taking care of your heart.

A genetic variant can increase your risk for certain cancers4,5,6,7,8,9,10,11,12,13

The development of cancer is complex and involves many factors. But in certain types of disorders like MUTYH-associated polyposis syndrome, your DNA can increase your risk of developing colon cancer by up to 100%.

Early detection can improve cancer survival rates5,8,10,11,13

GenePrism can identify risk factors that may prompt you and your doctor to screen for certain cancers earlier, giving you an important advantage.

What makes the genes included in GenePrism unique?

The 59 genes were selected by leading genetics experts because they have an important impact on certain conditions, and knowing if you are at risk means you can take action. In other words, if you learn of a genetic risk from this test, your risk is significantly increased over the general population—and there are actions you and your doctor can take to reduce your risks based on established medical recommendations.

Get the support you need

With your purchase of GenePrism, you get genetic counseling services from Genome Medical at no additional charge. Genetic counselors can answer any questions you have about the test and your results, and help you determine the best path forward to support your health.

The science

This test looks at DNA variants that impact your health for a number of different  inherited conditions. Leading genetics experts have published guidance that the 59 genes included in this test are important because they have a significant impact on the risk for developing certain conditions, which are considered medically actionable. Knowing your genetic risk can guide health decisions like prevention, early detection, intervention, or informed medication choices.

Other factors, such as your age, lifestyle, or environment, will influence your risk for many of the conditions covered by this test. There are also more common genetic risk factors not included in this test that contribute a small amount of risk for some of these conditions. While this test includes the majority of known, highly impactful genetic risk factors, a negative result, or a result without any known variants, does not completely eliminate your risk for the condition. Your risk for a given condition may still be higher if you have a family history of the condition or other risk-increasing factors that are not covered by this test.

Impact

DNA variants in the genes included in this test are known to have a meaningful impact on your health risks.

Limitations

  • This is not a diagnostic test and is not intended to diagnose any medical conditions.
  • This test will not tell you if you currently have one of the conditions covered by the test, or if you definitely will or will not develop the condition in the future.
  • Certain specific genetic variants or variant types in or near these genes may not be included in this test. For example, complex variants like inversion exon 1-7 in the MSH2 gene (Boland inversion) or exons 12-15 of the PMS2 gene are not analyzed or reported.
  • The 59 genes included in this product do not represent all relevant genes for some of these conditions.
  • This test cannot tell that you have zero risk for developing one of these conditions during your life. Other genetic factors and non-genetic factors (like lifestyle and environment) can also contribute to some of these conditions.
  • Non-medical information (such as ancestry and traits) is not included.
  • Results may change as research continues to allow us to better interpret what these and other genes mean for health.

How it works

Your Helix saliva collection kit ships within two days. Once Helix receives your saliva sample, they begin sequencing your DNA. Through our seamless process, your order requires a review of your related health history and test order from Genome Medical.

No paperwork required

Answer a few questions about your health history during product registration. It takes just a few minutes.

No additional cost

The review of your health history adds no additional cost to your test, and insurance isn’t required.

Submit your sample

Go to helix.com/start to register your kit and provide your health history. Mail your sample to our lab.

Get your results

A physician will review your information and you’ll get an email with your results when they’re ready.

Make a plan

Connect with your genetic counselor to determine the next steps for your health.

The Helix DNA kit

To capture the information stored in your DNA so it can be used for this product, we need to collect a small, one-time saliva sample from you. This kit has everything you need to provide that sample from the comfort of your own home, and you’ll never have to provide another.

  • A unique Kit ID you’ll use to register your kit

  • Saliva collection tube, cap, and printed instructions

  • A small bag and prepaid box to send your saliva sample to our lab

References

1
Marci L.B.Schwartz et. al. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.Am J Hum Genet. 2018 Sep. PMID 30100086
2
Emily Youngblom. Familial Hypercholesterolemia. December 8, 2016. GeneReviews® . PMID: 24404629
3
Ned RM et.al. Cascade Screening for Familial Hypercholesterolemia (FH). PLoS Curr. 2011 May 23 . PMID 21633520
4
Nancie Petrucelli, et.al. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. December 15, 2016. GeneReviews® .
PMID: 20301425
5
SEER Stat Fact Sheets: Breast Cancer. National Cancer Institute.(Accessed on 03/2019)
6
Charis Eng. PTEN Hamartoma Tumor Syndrome. June 2, 2016. GeneReviews® . PMID: 20301661
7
Maartje Nielsen,et.al. MUTYH-Associated Polyposis September 24, 2015.GeneReviews® . PMID: 23035301
8
SEER Stat Fact Sheets: Colon Cancer. National Cancer Institute.(Accessed on 03/2019)
9
Wendy Kohlmann, et al.Lynch Syndrome. April 12, 2018.GeneReviews® . PMID: 20301390
10
SEER Stat Fact Sheets: Prostate Cancer. National Cancer Institute.(Accessed on 03/2019)

11
SEER Stat Fact Sheets: Ovarian Cancer. National Cancer Institute.(Accessed on 03/2019)

12
Thomas J McGarrity,et al. Peutz-Jeghers Syndrome. July 14, 2016.GeneReviews® . PMID: 20301443

13
SEER Stat Fact Sheets: Uterine Cancer. National Cancer Institute.(Accessed on 03/2019)

About PerkinElmer Genomics

Families and healthcare providers deserve access to the powerful and insightful knowledge held within our DNA when making difficult medical decisions. At PerkinElmer Genomics, we strive to make this a reality; faster, more affordable and at a higher quality than any other means available. By shining a light into the complex, uncharted landscape of genomics, we are shaping its future and the impact it will have on our lives.

Have a question or need support for email product? Contact GenePrismHelp@perkinelmer.com

About Helix

Helix empowers everyone to explore what makes them unique—their DNA.

From health and wellness insights to family planning and ancestry information, Helix’s growing list of partners can tap into your genetic profile to provide relevant insights for today, tomorrow and years to come.

Have a question about ordering or sequencing? support@helix.com

Sample Reports

Significantly increased risk for hereditary colorectal cancer

Genetic risk factor for
colorectal cancer

No known colorectal cancer genetic risk factors found

FAQs

  • What can I learn from this product?

    GenePrism: Actionable Insights focuses on genes that can impact your health. Specifically, it looks at genes where, if you have an inherited risk factor, there are steps you can take to reduce or address your medical risks. Medical risks are part of a spectrum—some gene variants cause a higher medical risk than others do. This test does not tell you if you have, or will definitely develop, any of these medical conditions.

    This test will tell you about inherited risk factors that you might not otherwise know about based on family history or standard medical screening tests. There are also common risk factors for many health conditions that are not covered by this test. For example, GenePrism: Actionable Insights looks for specific inherited forms of cancer, but it will not tell you about all of your risk factors for cancer including common genetic risks (that we all have in some combination), lifestyle, and environment.

  • Why does GenePrism: Actionable Insights focus on 59 genes, when there are so many more genes?

    Leading genetics experts with the American College of Medical Genetics and Genomics (or ACMG) determined that this list of health-related genes can provide important information today to help people and their families take action to positively impact health decisions. This means that if you learn of a genetic risk from this test, your risk is significantly increased over the general population, and there are actions you and your doctor can take to reduce your risks based on established medical recommendations.

    There are other genes that impact health that are not included in this test. For example, there are many types of heart disease that are more common, and can be caused by a combination of smaller genetic risk factors plus other factors like lifestyle and environment. This test focuses on less common, inherited conditions which may not otherwise be detected by standard medical screening. As more is learned, other genes and other health insights may be added to this test over time.

  • How are genes tested for specific conditions?

    Genes are stretches of DNA that program our body to perform different functions. Having a variation in a gene can change how it works, and can lead to certain health conditions. Some genes in this test are linked to several conditions. For example, certain cancer risk genes may be associated with several types of cancer. Some conditions are also linked to more than one gene.

  • If I don’t have a family history of any of these conditions, why would I take this test?

    Knowing your family history is helpful, but often not the full story. Some families with an inherited risk for these conditions might not be aware. Not everyone who has one of these genetic risk factors will go on to develop the condition. In other cases, relatives might not share details about health conditions. For example, you may know that a family member had a heart attack at an early age, but it may not have been a diagnosed as an inherited condition, or the specific name may not be known.

  • How can this testing impact family members?

    Genetic risk factors can run in families, so your testing may or may not uncover medical risks to your close biological relatives. If you learn you have an inherited risk from this test, sharing your results with your family helps them understand these risks and have discussions with their own doctors. Everyone reacts to this kind of information differently, and it can have an impact on family dynamics. Your doctor or a genetic counselor can help you navigate ways to discuss genetic risks with your family.

  • How long will it take to get my GenePrism results?

    After you have submitted your sample and have been sequenced by Helix, you will receive your GenePrism results in about 10-14 days.

    The work that we do during this time is a big part of what makes GenePrism a high-quality, clinical-grade product that you can trust. First, the clinical genetics experts at PerkinElmer Genomics will analyze your DNA information from Helix. They will compare your information with the most current clinical DNA databases in order to determine whether you have any variants in the 59 genes tested by this product that carry important information for your health. After this analysis is complete, it takes some additional time to create your online report. PerkinElmer Genomics then sends it to the physician who authorized your test for a final review.

  • How can I share results with my doctor?

    GenePrism: Actionable Insights includes a personal Clinical Report that will have details about your results, so you can share with your doctor. The Clinical Report is available for you to download when you receive your results online.

    You can also speak with a genetic counselor from Genome Medical at no additional charge. Genetic counselors can help you understand your results, consider next steps, and discuss how to share information with doctors and family. Your genetic counselor will also provide you with a clinical action plan that you can share with your doctor.

  • What if I have a family history for one of the conditions covered by this test?

    If you have a personal or family history of a condition covered by this test, you may want to speak with a genetic counselor or your doctor about whether additional or different genetic testing through your doctor or a genetics professional may be appropriate for you. GenePrism: Actionable Insights is intended to provide proactive health insights for those who do not have a significant family history associated with the health conditions that it includes.

  • How can speaking with a genetic counselor help me and my family?

    A genetic counselor is a medical professional specifically trained to help you understand how your genetic information can impact your health, as well as your family’s. A genetic counselor can help at any point throughout your experience. Early on, they can talk to you about whether this product is your best option, or if another one might be better. Later on, they can explain your results to you, discuss medical recommendations, and help you put those into action with your doctor. Genetic counselors are a trusted resource that you can access at any point in the process. Sometimes a genetic counselor may also contact you to offer help along the way. Genetic counseling for GenePrism: Actionable Insights is provided by Genome Medical at no additional charge.

  • What is Genome Medical?

    Genome Medical is a leading telegenomics technology and services company, whose mission is to integrate genomics into everyday health care. Their network of clinical experts provides comprehensive genetic services through telehealth consultations and a genomic care delivery platform. Genome Medical provides physician review of the test and board-certified genetic counselors to help you understand your results and create a clinical action plan, at no additional cost.

  • Do I have to get sequenced to use this product?

    Yes. In order to use GenePrism, you must be sequenced by Helix. To ensure the quality and accuracy of the genetic information used for this service, products in the Helix marketplace do not accept genetic data from outside sources. And, once you’ve been sequenced by Helix, you can purchase more DNA-powered products from a variety of categories like fitness, nutrition, entertainment, and more—all without having to get sequenced again.

  • How does Helix provide my DNA information to PerkinElmer Genomics? Is it shared with anyone else?

    Your DNA information is stored securely by Helix. When sequencing is complete, Helix only sends the relevant DNA information needed by PerkinElmer Genomics to generate your results. We do not share your DNA information with anyone without your permission. We always maintain high standards when it comes to the security and privacy of your DNA information.

  • How do I view my results?

    PerkinElmer Genomics will send you an email when your results are ready to be viewed online.

  • How do I learn more about how PerkinElmer Genomics uses my information?

    You can learn more in the PerkinElmer Genomics Privacy Policy, Terms of Service, and Product Consent.

  • Can I choose my own physician to approve testing?

    No. When you order GenePrism, you answer relevant health history questions. Helix will share your contact information and health history with PerkinElmer Genomics so a physician they designate can review and make sure this product is right for you. This process helps make sure you get access to these insights quickly and efficiently through a provider that is familiar with this type of testing. You can always share your results with your healthcare providers.

  • Do I need access to my medical records to answer the health history questions?

    While it might help to have your records handy, it’s definitely not required. It’s okay to answer the health history questions from memory to the best of your ability.

  • Can I use my health insurance benefits to purchase this product?

    Unfortunately, no. This is an at-home test that doesn’t require an office visit, and we cannot currently accept payment from insurance providers.

  • Will someone be available to help me understand my results?

    While your results will be delivered to you in an easy-to-understand format, PerkinElmer Genomics knows that you may have questions. That’s why PerkinElmer Genomics makes available, through its physician network, experts who can help you understand what your results mean for you and your family. We also encourage you to share your results with your physician if you have any specific questions or concerns.

Understand your inherited health risks for cancer, heart disease, and more so you can take preventative action.

Hereditary cancers

Breast cancer
Ovarian cancer
Colon cancer
Prostate cancer

Metabolic conditions

Conditions that affect how we process certain medications or nutrients

Heart conditions

Irregular heart beat
Heart muscle disease
Very high cholesterol

Most people aren't aware they have
an inherited condition

Learn your genetic risk

Some conditions can be genetic, and if left untreated, can be life threatening. GenePrism can help you take the first step in learning your risks.

Manage your health

In addition to working with your doctor, you can connect with a genetic counselor who can help you on the path to successfully managing your health.

Talk to your family

Inherited conditions can affect family members, too. Help your loved ones understand your results and how their health could be impacted.