Riscover Hereditary Cancer

Discover your risk for hereditary cancer.

Your family matters.

Taking care of your health is one of the most important things you can do for yourself and your family. When cancer “runs in the family,” you could be at increased risk because of genes that you inherited from your parents.

The Riscover™ Hereditary Cancer Test can help you understand your risk for certain types of cancer and ensure you’re taking all the right steps to stay healthy. It can also help your family members learn about their own risk for cancer.

Learn more about hereditary cancer testing

Why screen for hereditary cancer?

Because cancer runs in families. 10% of cancer is hereditary, which means that genes that you inherit from your parents can make you more likely to get certain types of cancer. If you have a family history of cancer, you could be at risk for hereditary cancer. Talk to your healthcare provider about whether your family history indicates an increased risk for hereditary cancer.

1 in 12 people have a family history consistent with hereditary cancer.

Because if you discover your risk, you can change your future. Knowing your risk for hereditary cancer empowers you to take steps for early detection and prevention, such as comprehensive cancer screening, preventative medication, or risk-reducing surgery.

  • POSSIBLE CHOICES FOR PREVENTION AND EARLY DETECTION OF BREAST AND OVARIAN CANCER
  • Earlier and more frequent mammograms
  • Breast MRI screening
  • Preventative medication like tamoxifen or birth control pills
  • Mastectomy
  • Removal of the ovaries and fallopian tubes

Because testing can help the whole family. Hereditary cancer testing isn’t just for you. If you are found to have a hereditary cancer gene variant, your parents, siblings, and children have a 1 in 2 chance of carrying the same gene variant. Discovering your risk can help your family make informed choices about hereditary cancer testing and cancer screening.

How is cancer inherited?

What types of cancer risk can be tested?

Many types of cancer can be associated with an inherited risk. Hereditary cancer testing can look for variants in genes associated with these and other cancers:

  • Breast cancer
  • Ovarian cancer
  • Fallopian tube cancer
  • Peritoneal cancer
  • Pancreatic cancer
  • Prostate cancer
  • Colorectal cancer
  • Uterine cancer
  • Stomach cancer
  • Small bowel cancer
  • Biliary tract cancer
  • Kidney cancer
  • Ureter cancer
  • Brain tumors

How does the testing process work?

Specimen collection

A small sample of your blood is drawn and sent to the Progenity laboratory. The DNA from your sample is extracted and held while the health plan authorization process is completed.

Health plan authorization

Before performing the test, we contact your health plan to request coverage. This process can take a few days or several weeks to complete. Some health plans require a third-party genetic counseling prior to testing.

Laboratory analysis

Once the health plan authorization process is complete, the test will be performed and results sent to your healthcare provider. Testing takes about two weeks.

Test result consultation

Along with your healthcare provider, Progenity’s genetic counselors are available to help you understand your results and answer any questions.

What do the results mean?

POSITIVE (ABNORMAL)
Results are positive when testing finds a pathogenic variant in a tested gene. Positive results don’t mean that you’ll develop cancer. They do mean that your risk for cancer is higher than average because of an inherited change. The result report will explain your risk and will outline your screening and prevention options.

NEGATIVE (NORMAL)
Results are negative when testing does not find any variants in a tested gene that would cause an increased risk for cancer. Results are highly accurate, but no test is perfect. It is possible to have changes in parts of the genes that weren’t tested, or in genes that aren’t included in this test.

VARIANT OF UNCERTAIN SIGNIFICANCE
Sometimes, testing finds a gene variant that is not clearly normal or abnormal. In this case, the result is reported as a variant of uncertain significance, or VUS. These types of variants are common. As researchers learn more about these gene variants over time, a VUS result may be changed to a Positive or Negative result. Testing other family members can sometimes help interpret this result.

After testing, your healthcare provider will work with you to develop a plan based on your results, history, and preferences.

Frequently asked questions

The Riscover test can analyze up to 31 genes associated with inherited cancer risk. Expert medical guidelines support testing for these genes because there is scientific evidence that they increase the risk for certain cancers. Some genes are associated with syndromes with a high risk of cancer. For example, hereditary breast and ovarian cancer syndrome is associated with increased risk for breast, ovarian, and other cancers. Lynch syndrome is associated with increased risk for uterine/endometrial, colorectal, and other cancers. Other genes are associated with moderately increased risk for certain types of cancer. The genes that you are tested for may vary based on your healthcare provider’s recommendation and your family history of cancer.

If your health plan approves coverage, you’ll be responsible for co-pays or deductibles, just like any other healthcare service. If your health plan doesn’t approve coverage, we may submit an appeal. If coverage is denied, we'll call you to review your options.

Gaps in clinical protocols can expose patients and practices to risk.

Testing for hereditary cancer risk is the standard of care for patients with a relevant family history. Decrease risk and improve patient outcomes by:

Adopting an efficient clinical workflow that identifies at-risk patients

1 in 12 patients should be considered for testing.

In family history interviews from >30,000 people in the general population, about 8% had a strong cancer family history, and about 4% met formal testing criteria.1

Asking about family history helps discover risks.

Screening patients thoroughly means asking about cancer history across several generations, on both sides of the family.2,3

Choosing a lab with high quality standards and outstanding support

Laboratories performing hereditary cancer testing aren’t all the same.

We follow expert guidelines for panel content and variant interpretation, and we stand behind our results with confirmation and a lifetime reclassification guarantee.

Pre- and post-test support helps identify patients and turn results into action.

We provide all the tools you need, expert consultations, and results that help you improve your patients’ lives.

"'Failure to Diagnose’ genetic mutations that predispose patients to developing cancer are poised to become the next wave of [medical professional liability] lawsuits."

Contemporary OB/GYN, June 20174

Riscover Comprehensive – One simple test for at-risk patients

Evaluates 31 genes associated with increased risk for breast, ovarian, colorectal, endometrial, pancreatic, and other cancers.

Families can be complicated in many ways, including their cancer history patterns. Many genes and syndromes have overlapping cancer associations, and clinical and family history alone may not pinpoint a single gene or syndrome to investigate. The Riscover Comprehensive panel simplifies your testing protocol. When the family history of cancer is suspicious, but not specific, this test offers a thorough and clinically appropriate way to evaluate risks.

GENES AND CANCER IMPACT

Gene
Breast
Ovarian
Endometrial
Colorectal
Pancreatic
Polyposis
Gastric
Endocrine
Melanoma
APC
ATM
BARD1
BMPR1A
BRCA1
BRCA2
BRIP1
CDH1
CDK4
CDKN2A
CHEK2
EPCAM
MEN1
MLH1
MSH2
MSH6
MUTYH
NBN
NF1
PALB2
PMS2
POLD1
POLE
PTEN
RAD51C
RAD51D
RET
SMAD4
STK11
TP53
VHL

Fast facts: Riscover Comprehensive

Test Includes
Specimen Type
Turnaround Time
Reported Variants
Evaluates 31 genes
Whole blood, buccal swab, or mouthwash specimens accepted
Results in 14 days (after prior authorization)
Pathogenic; Likely pathogenic; VUS

Riscover BRCA

Tests for hereditary breast and ovarian cancer syndrome, which increases risk of breast, ovarian, and other cancers

Riscover BRCA evaluates the BRCA1 and BRCA2 genes using next-generation sequencing. Pathogenic variants in these two genes cause hereditary breast and ovarian cancer syndrome (HBOC). HBOC is a hereditary disorder associated with an increased lifetime risk of breast, ovarian, pancreatic, prostate, and other types of cancer.

BRCA lifetime risks

Management Options

Once risk is identified, there are many ways to plan for prevention and/or early detection as recommended by the NCCN guidelines5.

Any positive report will be accompanied by a Result Navigator that will help you make an actionable plan.

  • Frequent clinical breast exams
  • Breast MRI and mammograms
  • Risk reducing mastectomy and salpingo-oophorectomy
  • Ultrasound
  • Blood tests
  • Medication

Fast facts: Riscover BRCA

Test Includes
Specimen Type
Turnaround Time
Frequency
Evaluates BRCA1 and BRCA2
Whole blood, buccal swab, or mouthwash specimens accepted
Results in 14 days (after prior authorization)
1 in 400 people are affected7

Riscover Ashkenazi Jewish Three-Site Analysis

1 in 40 people of Ashkenazi Jewish ancestry will test positive for a BRCA1 or BRCA2 variant.7

The Ashkenazi Jewish Three-Site Analysis option tests three specific variants:

  • BRCA1 c.68_69delAG
  • BRCA1 c.5266dupC
  • BRCA2 c.5946delT

These variants account for >98% of the pathogenic BRCA1/2 variants in the Ashkenazi Jewish population.7

Riscover Lynch Syndrome

Tests for Lynch syndrome, which increases risk for colorectal, endometrial, ovarian, and other cancers

Riscover Lynch Syndrome evaluates five genes with next-generation sequencing: MLH1, MSH2, MSH6, PMS2, and EPCAM. Lynch syndrome is a hereditary cancer syndrome associated with 3 – 5% of all colorectal cancers, in addition to other types of cancer.7

LYNCH SYNDROME-RELATED CANCERS
Colorectal
Biliary tract
Endometrial
Pancreatic
Stomach
Kidney
Ovarian
Ureter
Small bowel
Brain tumors

Lynch lifetime risks

Management Options

Once risk is identified, there are many ways to plan for prevention and/or early detection as recommended by the NCCN guidelines6.

Any positive report will be accompanied by a Result Navigator that will help you make an actionable plan.

  • Frequent colonoscopies
  • EGD with extended duodenoscopy
  • Risk reducing hysterectomy and salpingo-oophorectomy
  • Ultrasound
  • Blood tests
  • Medication

Fast facts: Riscover Lynch Syndrome

Test Includes
Specimen Type
Turnaround Time
Frequency
Evaluates MLH1, MSH2, MSH6, PMS2, and EPCAM
Whole blood, buccal swab, or mouthwash specimens accepted
Results in 14 days (after prior authorization)
1 in 400 people are affected8

Why Progenity? We make it easy.

From start to finish, our team is committed to making your life easier. We’ll work with you to implement a practical program of genetic testing, tailored to the needs of your practice and your patients.

Expert clinical support for providers & patients

Our team is here for you. A world-class team of genetic counselors and experienced laboratory directors is on call to support physicians and discuss results with patients.

Proactive notification of positive results

Never miss a positive result. Our staff reviews each positive result and personally contacts your office. Our team of genetic counselors is always available to answer any questions.

Personalized client service at every step

Where you’re a name, not a number. Your responsive Progenity account manager is available locally, and the Progenity Client Services team is just a phone call away.

REFERENCES

  1. Scheuner MT, McNeel TS, Freedman AN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med. 2010; 12(11):726–35.
  2. American College of Obstetricians and Gynecologists Committee Opinion Number 634 (2015). Hereditary cancer syndromes and risk assessment. Obstet Gynecol. 2015; 125: 1538–43.
  3. Solomon B, Whitman T, Wood ME. Contribution of extended family history in assessment of risk for breast and colon cancer. BMC Fam Pract. 2016;17(1):126.doi:10.1186/s12875-016-0521-0.
  4. Cotton VR, Kirkpatrick DH. Failure to recommend genetic testing in breast cancer. Contemporary Ob/Gyn. 1 June 2017.
  5. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2017. Available at nccn.org.
  6. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2016. Available at nccn.org.
  7. Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. (Updated 2013 Sep 26). GeneReviews®: University of Washington, Seattle; 1993-2017. Available at www.ncbi.nlm.nih.gov/books/NBK1247/.
  8. Kohlmann W, Gruber SB. Lynch Syndrome. (Updated 2014 May 22). GeneReviews®: University of Washington, Seattle; 1993-2017. Available at www.ncbi.nlm.nih.gov/books/NBK1211/.

Next-generation cancer risk detection

Advanced sequencing technologies and the highest laboratory standards ensure quality results.

Testing of the highest technical quality

  • >99% technical sensitivity and specificity for sequence variants, and >92% technical sensitivity and >99% specificity for copy number variants
  • All coding exons for each gene are analyzed, plus 20 base pairs of flanking non-coding DNA for each exon and select regulatory domains and intronic regions
  • Pathogenic, likely pathogenic, and variants of uncertain significance are all confirmed by an independent method and clearly reported

Exceeding industry standards for variant classification

  • Variant classification performed by a highly qualified team of genetic experts, in accordance with guidelines from the American College of Medical Genetics and Genomics (ACMG)
  • Comprehensive review of evidence, including curated databases (HGMD, ClinVar, 1000 Genomes, ExAC) and peer-reviewed medical literature
  • Multiple-level report review with sign-off by a board-certified geneticist

Advancing the science of cancer risk analysis

  • All sequence and copy number variants reported to the NCBI ClinVar database
  • Up to two family members tested at no additional charge when indicated for variant classification
  • Ongoing evaluation of the medical literature, with a commitment to variant re-classification and amendment of patient reports

Our laboratory is CLIA-certified and CAP-accredited

We collect and review evidence from a variety of sources including peer-reviewed literature and numerous curated databases

We are committed to sharing variant data and updating classifications based on new information

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