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Ambry Genetics Review: Can DNA assist health professionals?

Written by Michael Principato, BPHE (Bachelor of Physical and Health Education) | Last updated:

Overview

  1. Products: Ambry’s primary offering is clinically focused genetics testing that is highly specified and meant to assess an individual’s potential risk for ailments including hereditary cancer, heart conditions, neurological conditions, and other rare diseases.
  2. Cost: Ambry Genetics’ payment processes are meant to allow users to take advantage of insurance coverage to absorb the cost of genetic testing. They claim the average cost for individuals who use their service is $100, and many pay nothing out of pocket.
  3. Reports: For the majority of their tests, the reports are extremely detail oriented providing a meticulous breakdown of the analysis performed and the mutations, or lack thereof, identified.
  4. Raw Data Access: Ambry does not provide users with access to their raw genetic data; the information is exclusively used for testing and analysis in-house.
  5. Privacy: There are a significant number of scenarios in which Ambry collects the Protected Health Information (PHI) of its customers and uses it or discloses it without their consent.
  6. Alternatives: SelfDecode – Provides comprehensive, individualized, and clinically oriented genetic reports featuring wellness recommendations with zero sharing or sale of client data.

Pros

  • The level of detail that Ambry provides within its test reports is significant. Users or clinicians can directly access the science that was used to undergo the analysis, and the diagnostic interpretation of the results.
  • Ambry Genetics holds contracts with many US health insurers. Many users will likely be able to pay a significantly reduced fee for their testing and reporting services.
  • Ambry Genetics provides tests for both a broad genetic assessment as well as for hyper specific conditions that are particular to a small set of genotypes, giving individuals a wide range of services to select.

Cons

  • Ambry Genetics tests are very diagnostically focused—perfect for individuals who want to use genetic analysis in conjunction with their clinician. The flip-side is that their reports provide few actionable suggestions which their clients could implement independently.
  • There are privacy concerns when using Ambry Genetics’ services. The data collection they engage in is extensive. They share this information with third parties who are not only research oriented, but are intent on using such data for marketing.
  • Despite carrying out very direct and detailed analyses of users’ health and providing report sections meant to communicate such analyses, Ambry provides very little in terms of health recommendations based on that analysis.
  • Ambry suggests that users seek out genetic counseling to aid in the interpretation of their test results, but such counseling is not provided in-house and can be expensive.
  • For most users the information provided by Ambry Genetics will be indecipherable without a clinical aid.

About Ambry Genetics

Ambry Genetics was started in 1999 by founder Charles Dunlop who sought to make clinical research more applicable to the frontlines of medical diagnosis and treatment.

The company’s mission statement remains: “translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease.”

Ambry Genetics is a subsidiary of the larger, multinational, and Japan headquartered technology company Konica Minolta, with the Ambry Genetics specific headquarters residing in Aliso Viejo, California.

In 2014, Ambry Genetics was successful in defending a lawsuit from competitor Myriad Genetics, whom the supreme court had ruled a year before would not be allowed to patent the BRCA1 and BRCA2 genes. Both are critical genes for oncological testing— a key test offered by Ambry. You can read this full Myriad Genetics review for more information.

Review of Ambry Genetics Products and Features

Ambry Genetics offers four main categories of genetic testing for disease: hereditary cancer, heart conditions, neurological disorders, and rare conditions. Additionally, whole exome sequencing is offered, along with specialized tools for practitioners.

Ambry offers a selection of diagnostically oriented tests for practitioners and healthcare professionals. They also offer 2 broader whole exome and chromosomal microarray tests for a more extensive genetic analysis, but which still cannot be procured by the patient directly.

Ambry Genetics offers many specific hereditary genetic testing kits for patients to use. However, the kit can only be obtained by health-care professionals. They focus on specificity and accuracy within their tests, clinically reviewing received samples.

Raw genetic data cannot be submitted to Ambry Genetics for evaluation, patients must use the tests that are offered to receive a report. That being said, the main body of the report is extremely inaccessible to the average user, and seems intended solely for clinician use.

Review of Ambry Genetics Test Reports

The Ambry Genetics test menu consists of four main categories: oncology, cardiology, neurology, and exome/general genetics. Additional add-ons and options are available, such as precise risk scores for specific cancers.

Reports generated typically present data in the form of results first, then a summary, and end with an interpretation of the results along with additional information about the gene or test being used.

Results and Summary

Figure 1 shows an example of the results and summary section of an analysis of 124 genes associated with epilepsy, included in the neurology section of the test menu. This section generally includes positive, negative, or unknown significance of the genes tested.

Ambry Genetics Test ResultsFigure 1: Results and Summary of sample epilepsy report

Interpretation

The interpretation section of reports provides a list of complex, scientific jargon geared towards health-care professionals. Figure 2 shows the interpretation section of a sample report for a cardiological analysis.

Ambry Genetics InterpretationFigure 2: Interpretation section of sample cardiology report

Additional Information

The reports conclude with an abundance of information regarding the gene and testing protocol. Finally, resources and references are included. Figure 3 features the last section of a typical report, providing additional information to be utilized by a health-care professional.

Figure 3: Additional information section of sample oncology report

Ambry Genetics Cost

Ambry claims to be partnered with regional and national health insurers and many users do not pay more than $100. Although, if health insurance does not cover the user, tests can cost up to $3000.

Ambry Genetics Health Recommendations

Functioning mainly as a practitioner tool, Ambry does not provide health recommendations directly to the user. The majority of the suggestions they make on their tests are with respect to getting screened for types of hereditary disease based on patient predisposition.

No supplement, lifestyle, or diet recommendations are provided in the reports. Instead, the reports that are generated recommend next steps for genetic screening, testing, and counseling.

Ambry Genetics Privacy and Security

Ambry Genetics can use the personal health information (PHI) of users without their consent in a variety of ways. This information is not de-identified from the users. These scenarios include making client information publicly available for research as well as sharing the data.

The health and payment information can be transferred to different health care providers and operations. This may include business associates of Ambry, including separate genetic database companies that could utilize this data to help develop pharmaceuticals. The PHI can also be used for research purposes.

In March 2020, Ambry reported that they were a victim of an email hack, potentially exposing the PHI of over 200,000 individuals.

Partnerships

Ambry Genetics is partnered with Invicro, a pharmaceutical company owned by the same parent company as Ambry, Konica Minolta. PHI could be shared with Invicro.

SelfDecode vs Ambry Genetics

  1. SelfDecode delivers natural supplement, diet, and lifestyle suggestions based on your genes that you can implement right away. Ambry Genetics does not offer any of these suggestions to their clients.
  2. SelfDecode tells you why they make each recommendation so that you can understand the science behind the suggestion. Ambry Genetics provides references, but not for specific health recommendations.
  3. SelfDecode prioritizes recommendations based on their analysis of all the relevant genes instead of one gene at a time (through reports). Ambry Genetics provides detailed reports, but no specific recommendations.
  4. SelfDecode takes a holistic approach to give recommendations that are best for your genes AND the health topic. Ambry Genetics does not take a holistic approach to their recommendations.
  5. SelfDecode has the world’s first and only personalized genetics blog that allows you to get new gene-based recommendations daily. Ambry Genetics does include a blog, but it is impersonal and is infrequently updated.
  6. SelfDecode is the most comprehensive and looks at more genes & SNPs (up to 83 million) to deliver the best analysis of genetic risks. Ambry Genetics’ tests are less comprehensive and usually only investigate a small amount of SNPs per test.
  7. SelfDecode supports everything with peer-reviewed scientific studies in their research and checks for contradicting information. Ambry Genetics supports their reports with scientific studies as well.
  8. SelfDecode never sells your data or gives it away. Ambry Genetics may use the personal health information (PHI) of users without their consent.

Comparisons

  SelfDecode Ambry Genetics Color Genomics Invitae

Personalized & holistic health recommendations

Yes No No

Variable with genetic counseling

Personalized blog posts

Yes No No

No

Products

DNA testing, wellness reports, research-based personalized blog posts, health recommendations, direct-to-consumer test kits, patient and provider options Genetic tests for healthcare professionals, whole exome sequencing for healthcare professionals DNA testing with a focus on cancer screening, genetic tool for healthcare professionals, limited health recommendations

DNA testing for cancer screening, genetic testing, client support system, health-focused reports

Raw data access

Yes No No

Yes

Cost (USD)

$97 – $397

$100 – $3,000 – depends on insurance coverage

$149 per test, variable depending on insurance coverage

$250 – $350 if not covered by insurance

Ambry Genetics Reviews

Since tests from Ambry Genetics must be obtained by a health-care provider, there are few direct customer reviews.

Google Reviews – 14 Customer Average Rating of 3.6 of 5 Stars

Google Reviews indicate that customers are either very satisfied with, or completely dissatisfied with their experience. Some users were shocked with the costs associated with the tests if it was not covered by their health insurance provider.

Social Media reviews are scarce, but notably, one Reddit user reported getting a bill from Ambry of over $3000 after getting genetic testing.

Alternatives to Ambry Genetics

SelfDecode: SelfDecode allows users to receive personalized health recommendations directly to them, as well as access to a personalized health blog supported by peer-reviewed scientific studies.

Ambry Genetics Review Summary

Overall, Ambry Genetics can be a useful tool for a medical specialist who is focused on a specific pathology. Unfortunately, without the direct consent of a health professional, the service is not very useful for people interested in improving their health.

Potential users should also be wary of the privacy policy that allows potential use of their health information without their consent, and the inability to access their raw genetic data. People searching for personalized health information to improve their quality of life based on their DNA will find better options elsewhere, such as SelfDecode.

For healthcare providers, SelfDecode offers a professional plan with unlimited DNA file uploads and wellness reports to help improve patients’ quality of life.

About the Author

Michael Principato

Michael Principato

BPHE (Bachelor of Physical and Health Education)
Michael received his BPHE from the School of Kinesiology and Health Studies at Queen's University

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