Ambry Genetics review – Diagnostic DNA testing for everyone?

Ambry Genetics Review Summary

Ambry Genetics is a diagnostic DNA testing company that offers a variety of physician-ordered genetic tests. Learn more in our Ambry Genetics review!

Nebula Genomics

Results
Price
Ease of use

Summary

Ambry Genetics is a genetic testing and clinical diagnostic company that works through healthcare providers to address health issues. It may be covered by insurance and is easy to purchase when collaborating with a physician.

4.3

7 Facts from our Ambry Genetics Review

  1. Location: Aliso Viejo, CA
  2. Products: Clinical DNA testing products that determine the risk of various diseases; based on SNP chips, targeted gene sequencing and whole-exome sequencing 
  3. Report delivery: Healthcare professionals deliver the reports to the patient to help with healthcare decisions
  4. Data access: No access to raw DNA data
  5. Privacy: Personal information is collected and shared when deemed necessary for research or legal purposes
  6. Cost: Most patients pay from $0 to less than $100 when covered by insurance; otherwise, it can be as high as $3,000 
  7. Alternatives: Nebula Genomics (whole genome sequencing with regularly updated reports)

This review is written with the intent to be as unbiased as possible. However, it represents the opinion of an individual reviewer and is therefore subjective. Furthermore, at Nebula Genomics we seek to educate the public about the benefits of Whole Genome Sequencing. Information about our Whole Genome Sequencing DNA test is therefore incorporated into the review.

September 19, 2022

Edited by Christina Swords, Ph.D.

Pros and Cons

Pros

  • Clear testing procedure guided by your healthcare provider
  • Detailed clinical assessment for genetic health risks
  • Results reviewed by specialists to ensure accuracy

Cons

  • You must contact a healthcare provider to use Ambry Genetics services
  • No access to your raw DNA file
  • No way to use DNA data obtained from other providers

Introduction

Ambry Genetics Corporation was founded in 1999 by Charles L. M. Dunlop and is currently led by Aaron Elliott. It is located in Aliso Viejo, California, part of Ambry Genetics Konica Minolta Precision Medicine. With over 20 years of experience, Ambry provides genetic testing for hereditary cancer (e.g. breast cancer), cardiac disease, neurological disease, and many other conditions using targeted sequencing methods.

The Ambry Genetics labs are CLIA approved and CAP-accredited. Unlike consumer genetics-focused companies, its business model enables clinicians to determine the best treatment based on a patient’s genome. Ambry does not sell its test kits directly to consumers, and providing raw DNA data is not part of its services.

Are you interested in breaking down 100% of your DNA instead of only a few genes? Nebula Genomics decodes 100% of DNA, including all regulatory genomic regions with our Whole Genome Sequencing. Compare that to Ambry Genetics’ Whole Exome Sequencing, which decodes only 1% of your DNA. Click here to learn more!

Review of Taking an Ambry Genetics Test

The first step is to contact a healthcare professional, who will determine and order the sample collection kit that suits your needs. Depending on the test, you may need to have your family pedigree and history of previous diagnostic tests recorded before taking the test. 

Afterward, you will provide a saliva, swab, or blood sample, depending on the type of testing chosen. Ambry’s clinical laboratory receives the patient’s sample and sequences it. Ambry will send the report directly to your healthcare professional to discuss the results with you.

Steps to take for your your genetic testing with Ambry Genetics, starting from contacting healthcare provider, providing your tissue samples, and sending it.
The entire process is split into three main stages

The Science behind the Ambry Genetics Test 

The Ambry Genetics menu includes many DNA tests grouped into 3 categories: SNP array (also known as chromosomal microarray), targeted gene sequencing, and whole exome. In addition to DNA testing, the offer includes combinations of DNA and RNA genetic testing.

To detect specific genetic variants across a patient’s genome, the company uses SNP arrays. This method is similar to 23andMe and AncestryDNA DNA tests. This technology also detects genomic rearrangements (such as insertions or deletions of large stretches of the genome). 

For targeted testing, Ambry sequences specific genes known to be essential in causing the disease if mutated. Depending on the test, this could range from one to hundreds of genes. Targeted gene sequencing is done using next-generation sequencing technology. 

Ambry Genetics offers several whole exome sequencing-based products. The test sequences the coding regions in your genes. Although this may sound like a lot, it is actually less than 2% of the entire genome. The remaining 98%, consisting of non-coding (often regulatory) regions, is not sequenced. 

Ambry offers paired RNA and DNA testing for some diseases, which may increase the sensitivity of detecting mutations in a patient.

Genetic Counseling Services

Since testing requires you to contact a healthcare professional first, you will be directed to a genetic counselor employed by the company if you prefer to use someone other than your doctor. 

There is free post-test genetic counseling for cancer patients that received results confirming a clinically significant mutation. The company also provides various counseling aids, which may help to further explain the tests and results.

Interested in testing for hereditary cancer? You may be interested in these posts:

Cost

The services are only available for patients residing in the United States. If your insurance covers it, you may qualify for free testing. If it doesn’t, Ambry will consider your financial situation before pricing.

According to one Reddit testimonial, the test not covered amounted to $3,290. In the same testimonial, the user also described how they had to pay extra for genetic counseling. 

Before letting your healthcare professional order a kit, make sure to check the details of your health insurance plan. Sometimes, insurers deem testing unnecessary, and you may receive surprise bills if you are not careful enough.

The company always provides free testing to patients with select genetic diseases collaborating with academic, corporate, and pharmaceutical partners.

Review of Ambry Genetics DNA Test Results

The DNA test reports are tailored for genetic counselors with relevant supplementary materials for patients depending on the outcome. The documents may look different, but the main sections are results, summary, interpretation, and assay information. 

The results reveal any clinically significant mutations. If one shows up, details will be provided, including the name, gene location, and type of inheritance. 

The summary section will indicate if the test was positive, negative, or if it detected variants with unknown effects.

The interpretation lists further details in complete sentences with additional information, such as the risk estimates and the kind of genetic counseling recommended. It describes the detected mutations and the genes analyzed.

The assay information describes how the test was conducted. This section will tell you what is being done with your DNA sample. 

The first page of the CancerNext sample report showing a positive result
The interpretation of test results includes recommendations for the patient and their relatives

If the test summary comes out positive, healthcare professionals will receive relevant management resources. Patients learn about their risk in the context of the general population. 

The first page of the clinical management resource provided by Ambry Genetics in a CancerNext sample report showing a positive result.
The first page of the clinical management resource provided by Ambry Genetics in a CancerNext sample report showing a positive result

Sometimes, the effects of the discovered mutation are not known because they are observed for the first time. These variants are called “variants of unknown significance.” The report will then be supplemented with an inter-species comparison to show the likelihood of the mutation becoming dangerous based on its presence in various animal species. 

A page of supplemental information for patients in the CancerNext sample report showing conservation of a variant of unknown significance across species.
A page of supplemental information for patients in the CancerNext sample report showing conservation of a variant of unknown significance across species.

The sample reports are limited to the most frequently ordered tests.

Access to Raw DNA Data

Providing raw DNA data to its patients is not part of the service.

Review of Ambry Genetics Privacy

Any personal or family information that you provide for your testing may be disclosed to several parties without your permission. They include Ambry’s genetic counselors and affiliated healthcare professionals. 

Your information will also be used for business operation purposes and disclosed to Ambry Genetics’ business associates. 

Public health authorities and other government institutions may also receive access to your data. 

You may exercise your right to limit disclosure of your information by contacting Ambry Genetics. This includes permitting your family members or other individuals responsible for the patient care to access your results.

Ambry Genetics in the News

The corporation was involved in a lawsuit with Myriad Genetics as it became one of the companies sued for infringement of a patented gene test. The case was settled in 2015

In 2016, Ambry opened up genetic data of 10,000 patients in a constantly growing database called AmbryShare.

Konica Minolta, a Japan-based company, bought Ambry Genetics in a deal worth $1 billion in 2017.

Employees of the corporation published a paper in Genetics in Medicine in late March 2018 claiming that 40% of mutations identified by direct-to-consumer testing companies are false positives. Employees from 23andMe responded by describing the variants used in the paper as not representative.

Ambry Genetics Corporation has increased testing efforts toward diagnosing and treating cancer. As a result, it is frequently featured at the forefront of research and next-generation diagnostics and disease screening.

Other Ambry Genetics Reviews

As Ambry Genetics primarily interacts with healthcare professionals and genetic counselors, few reviews are available online. 

There are multiple Ambry Genetics reviews on Google where people are satisfied on average, although they note few problems with billing.

Although reviews on company culture and work environment appear mainly positive on the work at Ambry with great benefits, there are some comments that upper management doesn’t acknowledge employees. Thus, there is a generally unfriendly atmosphere with in-person communications and high turnovers when working at Ambry Genetics.

Nebula Genomics

With 30x Whole-Genome Sequencing, Nebula Genomics decodes 100% of your DNA. In contrast, the most comprehensive test offered by Ambry Genetics, whole exome sequencing, decodes only 2% of the DNA.

Although Nebula does not offer a diagnostic test, our Whole Genome Sequencing data is comprehensive, easy to read, and you can share it with your physician and/or genetic counselor. If you have a known genetic disorder in your family history, please consult with a healthcare professional first.

Ambry Genetics23andMeAncestryDNANebula Genomics
TechnologySNP array, targeted gene sequencing, whole exome sequencingSNP array SNP arrayWhole genome sequencing at 30x coverage
Ancestry analysesNoYesYesDeep ancestry reporting with full Y chromosome and mtDNA sequencing
Raw DNA data accessNoYes (23andMe file format)Yes (AncestryDNA file format)Yes (FASTQ, BAM, and VCF files)
Data upload optionNoNo NoYes
Data exploration toolsNoNoNoYes
Regular reporting updatesNoNoNoRegular updates tailored to your personal interest
Price$0 – $100 if covered by insurance; very expensive otherwise $99 or $199 $99 or $119$0, $99, $299

If you are looking for clinical genetic testing, take a look at our other reviews below.

Diagnostics and disease risks:

  • Color (risks of cancer, genetic forms of heart disease, and medication responses)
  • Fulgent Genetics (comprehensive diagnostic company)
  • GeneDx (wide variety of clinical genomic tests)
  • Map My Gene (innate talents for children and disease risks)
  • Oral DNA Labs (specialized diagnostic tool for oral health)
  • Picture Genetics (at-home testing performed in a diagnostic lab)
  • Parsley Health (holistic medicine and health plans)
  • Pathway Genomics (DNA tests for various health aspects, may be used in consultation with medical providers)

Includes carrier status:

  • Integrated Genetics (pre- and post-pregnancy tests)
  • Invitae (diagnostics, proactive health, and reproductive health)
  • Myriad Genetics (diagnostics, reproductive tests, and precision medicine tests)
  • Sema4 (oncology, women’s health, carrier screening, and hereditary cancer)
  • Veritas Genetics (disease risks and carrier screenings)

Mental health:

  • GeneSight (clinical genomic test for psychotropics)
  • Genomind (pharmacogenomic testing for mental health treatment)

Rare diseases:

Tumor genetics for personalized treatment:

Other DNA testing companies that offer whole exome sequencing are:

Plus, learn more about whole exome sequencing!

Did you find our Ambry Genetics review informative? More reviews await you on our blog page. Don’t forget to check out our complete guide to the best DNA test kit and other home tests.