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Family follow-up testing

Variant testing for relatives of probands

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At Invitae, we are committed to lowering the cost of genetic testing and removing barriers to access. We offer family follow-up testing for probands tested at Invitae who are found to have a pathogenic/likely pathogenic variant or a variant of uncertain significance (VUS).

Family variant testing

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VUS follow-up testing

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Family variant testing

Invitae offers family variant testing for all blood relatives of patients who undergo diagnostic or proactive testing at Invitae and are found to have a pathogenic or likely pathogenic variant. Our family variant testing reports on the variant(s) that was identified in the original family member, as well as any other pathogenic variant(s) found in the full gene.

Genetic insights are a family affair

For patients who undergo diagnostic or proactive testing at Invitae and are found to have a pathogenic or likely pathogenic variant, their blood relatives can have up to a 50% risk of having the same variant.

  • Identifying the presence of a variant—sometimes even before symptoms occur—can enable preventive medical management
  • Identifying the absence of a variant can also have significant implications for relatives

Recent evidence shows that only a small percentage of relatives pursue follow-up testing.1,2 Reasons relatives do not pursue testing include lack of knowledge about the potential disease risk, family communication barriers, lack of access to genetics services, and cost of testing.3,4 As part of our commitment to lowering barriers to genetic testing, we offer testing to blood relatives of probands who were found to have a pathogenic or likely pathogenic variant.

Eligibility & requirements

  • Blood relatives of the proband
  • The proband was tested at Invitae
  • A pathogenic or likely pathogenic variant was found on a gene or panel test
  • Order must be placed within 90 days and samples must be received within 100 days of original patient’s test report
  • Available for diagnostic and proactive panel and single-gene testing only; not available for exome or reproductive health testing

If your patient does not meet these criteria, Invitae still offers testing at a reduced price, which may be covered by insurance. Visit www.invitae.com/billing to learn more.

How to order family variant testing

  1. Sign in to your Invitae portal account and start an order
  2. In the “Test selection” section, select the “Family follow-up testing” tab
  3. You will need to provide:
    1. The order number ("RQ number") of the proband tested at Invitae
    2. Proband's date of birth
    3. Relationship to the proband

If you prefer to place your order on paper, you can download the Family Variant Testing/VUS Resolution requisition form.

For family members of patients who were not tested at Invitae, select the “Browse test” tab, choose your desired test, and indicate the family variant details in the “Reasons for testing” section. Both a copy of the proband's report and information on family relationship to the original proband are required. A pedigree is recommended.

Have questions? Please don't hesitate to contact us.

Additional resources for patients

References:

1. Christiaans I et al. Update of genetic counseling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet. 2008;16(10):1201-7.
2. Sharaf RN et al. Uptake of genetic testing by relatives of Lynch syndrome probands: a systematic review. Clin Gastroenterol Hepatol. 2013;11(9):1093-100.
3. Kasparian NA et al. Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genet Med. 2009;11(4):265-78.
4. Sturm AC. Cardiovascular cascade genetic testing: exploring the role of direct contact and technology. Front Cardiovasc Med. 2016;3(11).

VUS follow-up testing

In order to help resolve variants of uncertain significance (VUS) in our panel test results, Invitae offers follow-up testing at no additional charge to family members of patients previously tested at Invitae. VUS follow-up testing is available when testing additional family members may clarify the relationship between the variant and the genetic condition.

Although participation in this program may not result in an immediate reclassification of the VUS, the reclassification may still occur at a later date after multiple families with the variant are tested. If a variant is reclassified, Invitae will issue amended reports with the new interpretation to all individuals we’ve tested who have the variant.

Eligibility & requirements

Gathering more evidence about a particular variant by testing additional families may help to reclassify a VUS. However, we recognize that not all variants can be resolved through this kind of analysis. Invitae will clearly communicate if the variant in the proband’s report is eligible for VUS follow-up testing.

The proband’s report will be labeled with one of the following statuses based on currently available evidence for the variant:

  • Recommended: Testing additional family member(s) has a reasonably high likelihood of resulting in a reclassification at some point
  • Not recommended: Testing additional family member(s) is unlikely to provide further evidence or result in re-classification. Common examples of VUS’ in this category include:
    • A single VUS observed in a gene associated with an autosomal recessive condition
    • A VUS observed in an unaffected proband
    • A VUS observed in a preliminary-evidence gene (i.e., genes where currently there is only early evidence of a relationship between variants in these genes and specific diseases)
    • A VUS with population minor allele frequency that is greater than expected to cause disease
    • A VUS that is suspected to be mosaic in the patient

How to order VUS follow-up testing

For variants that qualify for the VUS follow-up testing, a recommendation to participate will be placed in the proband’s report. For these variants, testing for up to two family members has been pre-approved. Guidance on which relatives will be the most useful for testing can be found in the reference table below or by contacting our client services team.*

  1. Sign in to your Invitae portal account and start an order
  2. In the “Test selection” section, select the “Family follow-up testing” tab
  3. You will need to provide:
    • The order number "RQ number" of the proband tested at Invitae
    • Proband date of birth
    • Family history and/or pedigree
    • Any medical records that may support the patient’s or family member’s diagnosis, such as clinic notes, pathology reports, and lab results.

If relevant medical records are not included, reclassification of a variant will be unlikely. A patient’s clinical features are used to aid in variant reclassification.

Please contact our client services team if you have any questions regarding initiating VUS resolution orders or required documentation for your case.

Frequently asked questions

What if I want to test individuals who don’t qualify for the VUS follow-up testing?
If the VUS identified in your patient does not qualify for VUS follow-up testing, testing additional family members is unlikely to contribute to a reclassification in this family. For these cases, Invitae offers testing at a reduced price ($200/gene).

When a VUS qualifies for VUS follow-up testing, which relatives should I test?
The table below can be used as a guide to help the clinician and family decide which family members would be the most informative for VUS reclassification. However, this may vary depending on specific cases, and the decision on which family members to test is up to the clinician’s discretion. Please note that clearly delineating when a relative is affected vs. unaffected is crucial in helping Invitae reclassify VUS. Affected relatives undergoing VUS follow-up testing must be accompanied by a detailed clinical history or clinic note.*

Autosomal dominant Autosomal recessive X-linked; male proband X-linked; female proband
Most helpful

Both parents OR affected first-, second-, or third-degree relatives on the same side of the family

 Both parents + 1 first-degree affected relative

Mother + affected male sibling or maternal relative

2 affected first-, second-, or third degree relatives on the same side of the family
Both parents Both parents Mother only Both parents
One parent Affected or unaffected siblings Mother + unaffected brother Unaffected brother(s) or son(s)
Unaffected siblings or children** Unaffected children
Affected second-degree relatives
Least helpful Unaffected second-degree relatives**


*If these documents are not included, reclassification of a variant will be unlikely. A patient’s clinical features are used to aid in variant reclassification. In some cases, only certain phenotypes will assist in variant reclassification, or the patient must meet clearly defined diagnostic criteria.
**Unaffected relatives should be older than the typical age of onset for disease.

Additional information that may assist with variant reclassification

For oncology VUS resolution requests: Please submit a family pedigree indicating the type of cancer and age at diagnosis (when available) for affected relatives. In addition, pathology reports and clinical notes detailing the patient and/or affected family members’ pertinent medical history are appreciated.

For cardiology VUS resolution requests: Please submit clinical notes summarizing and documenting the patient and/or affected family members’ diagnosis.  When applicable, reports containing LDL-C and total cholesterol results, ECGs, exercise stress test result, echo/cardiac MRI interpretation, EP studies, and cardiac biopsy results are appreciated.

For neurology VUS resolution requests: Please submit clinical notes summarizing and documenting the patient and/or affected family members’ diagnosis, in addition to a family pedigree. When applicable, clinic notes summarizing nerve conduction velocity/EMG results, serum CK, and muscle biopsy testing may assist with variant reclassification. For neurodegenerative disorders, fMRI and PET scan results are appreciated.

For pediatric VUS resolution requests: Please submit clinic notes summarizing and documenting the patient's clinical features, including the age of onset and a detailed summary of the presenting phenotype. In addition, please provide a family pedigree. When applicable, include a summary of EEG, MRI, ultrasound, and/or X-ray results.

For immunology VUS resolution requests: Please submit relevant laboratory results, including flow cytometry testing that may be supportive of the patient’s diagnosis, in addition to documentation of the patient’s phenotype and family history.

For metabolic VUS resolution requests: Please submit biochemical testing results, such as analyte testing or enzyme analysis that may be supportive of the patient's diagnosis, in addition to the requested clinical information and family pedigree.