Welcome to AncestryHealth®
for Healthcare Providers

Understanding the technology & science that power AncestryHealth®

Evidence-based science

We are selective about the tests included in AncestryHealth. We focus on tests for specific genetic variants that:

  1. Are associated with increased risk to develop certain health conditions
  2. Have clear steps that can be followed, in partnership with a healthcare provider, to improve health

For example, AncestryHealth includes testing for genetic variants associated with familial hypercholesterolemia (FH):

  1. The prevalence of FH is estimated at 1 in 200 to 1 in 5001
  2. FH is associated with an increased risk for heart conditions or stroke due to very high cholesterol levels from an early age
  3. There are actions that a healthcare provider can recommend to mitigate serious downstream events such as premature atherosclerotic cardiovascular disease.2

Next-generation sequencing (NGS) technology

NGS technology can detect more variants than standard microarray technology. The NGS technology included in AncestryHealth is designed to detect single nucleotide variants (SNVs) and small insertions and deletions (indels) primarily within the protein coding regions of the genes included in the test. Variant interpretation is performed using validated methods by our independent laboratory partners. In accordance with expert guidelines for population based genetic screening, only variants determined to be likely pathogenic or pathogenic are reported (x). Variants of uncertain significance (VUS), likely benign, or benign variants are not reported. Variant types such as large DNA deletions or duplications, copy number variants or rearrangements are not detected by this technology.

Genotyping technology

Genotyping technology looks for specific genetic variants present in an individual’s DNA. Some of these variants, also referred to as mutations, can lead to an increased risk of pathological changes underlying certain conditions. The custom genotyping array (or chip) technology used by our independent laboratory partners analyzes hundreds of thousands of variants throughout the human genome, including hundreds that provide insight into risk to develop certain health conditions.

Accuracy and quality

Analytical validity refers to the ability of a test to accurately detect whether a specific genetic variant is present or absent.

Clinical validity refers to how well the specific genetic variant being analyzed is related to the risk of developing a certain condition.

The tests included in AncestryHealth are developed and validated by our independent CLIA-certified laboratory partners in accordance with recommendations from the Association for Molecular Pathology and the American College of Medical Genetics.3

Proportion of variants covered

Variant coverage refers to the proportion of genetic variants with established disease associations that a test would detect. Variant coverage differs based on testing technology used and is also variable—by disease or condition, and by ethnicity within each disease or condition.

  • For diseases that can be caused by a larger number of variants, some, but not all, of the variants are detected by microarray technology. NGS technology can detect most of the known variants for these diseases.
  • For diseases caused exclusively or predominantly by a limited number of common variants such as sickle cell anemia, hereditary hemochromatosis, and hereditary thrombophilia, our variant coverage is >99% using microarray or NGS technology.

Information about variant coverage is clearly outlined in each health report as well as in the laboratory report. In addition, this information is published here.

This test may be considered as an opportunity to identify a genetic risk for a health condition. However, this test should not be considered to identify all genetic variants associated with a condition and/or rule out any condition. This is an even more important consideration when using genotyping technology for diseases that are caused by a large number of variants as genotyping technology assays only a subset of these variants. The test results are not diagnostic and do not determine overall chances of developing a disease or health condition.

User comprehension

Ancestry is committed to an ongoing effort to ensure that our customers understand the key concepts of each AncestryHealth report.

AncestryHealth reports are developed to be both scientifically accurate and easy to understand. For ease of understanding, reports are written in plain English as measured by an 8th grade reading level with Flesch–Kincaid readability tests.

AncestryHealth reports are tested for user comprehension. User comprehension studies are conducted with a large group of nationwide non-customer participants, administered in a real-life online setting. AncestryHealth reports are read by participants who then answer comprehension questions about the reports via an online survey. Participants’ understanding is assessed on key concepts such as: purpose of the test, risks, limitations, other health risk factors, and next steps.

1 https://www.ncbi.nlm.nih.gov/pubmed/25612857

2 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159444/

3 https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf

AncestryHealth® includes laboratory tests developed and performed by an independent CLIA-certified laboratory partner, and with oversight from an independent clinician network of board-certified physicians and genetic counselors. The test results are not diagnostic and do not determine a customer’s overall chance of developing a disease or health condition. The tests are not cleared or approved by the U.S Food and Drug Administration. Customers should consult a healthcare provider before taking any action based on AncestryHealth® reports, including before making any treatment, dietary, or lifestyle changes. AncestryHealth® is not currently available in New York, New Jersey, or Rhode Island.

is no longer available for purchase.

For more information please visit our support page.