ambry-genetics-review

Ambry Genetics review – Diagnostic DNA testing for everyone?

Rating based on our Ambry Genetics Review

7 facts from our Ambry Genetics Review

  1. Location: Aliso Viejo, CA
  2. Products: clinical DNA testing products that determine the risk of various disease; based on SNP chips, targeted gene sequencing and whole exome sequencing 
  3. Report delivery: reports are delivered to the patient through the healthcare provider to help with healthcare decisions
  4. Data access: no access to raw DNA data
  5. Privacy: a lot of personal data is collected and shared
  6. Cost: Most patients pay only around $100 because the test is covered by insurance, but if the cost is not covered it can be as high as $3,000. 
  7. Alternatives: Nebula Genomics (whole genome sequencing for $299), Invitae, Myriad Genetics, Color Genomics, GeneDx, and GeneSight

Introduction

Ambry Genetics is a genetic testing and clinical diagnostic company founded in 1999 by Charles L. M. Dunlop and is currently led by Aaron Elliott. It is located in Aliso Viejo, California, and is part of Konica Minolta Precision Medicine. Ambry provides services genetic testing for hereditary cancer, cardiac disease, neurological disease, and many other diseases using targeted sequencing methods. The Ambry Genetics labs are CLIA approved and CAP-accredited. Unlike consumer genetics-focused companies such as 23andMe and AncestryDNA, Ambry Genetics’ business model aims to enable 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 their services. Learn more in our Ambry Genetics review!

Are you interested in a test that decodes 100% of your DNA instead of testing only a few genes? Nebula Genomics offers Whole Genome Sequencing for only $299! This is the most complete DNA test that decodes all 20,000 genes and all regulatory genomic regions. In comparison, Whole Exome Sequencing that is used by Ambry Genetics decodes only 1% of the DNA. Click here to learn more!

How to take the Ambry Genetics test

If you are interested in taking a genetic test with Ambry Genetics, you must first contact a healthcare provider, 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 prior diagnostic tests recorded before taking the test. 

Afterward, you will provide a saliva, swab, or blood sample, depending on the type of testing chosen. Once the patient sample is received and sequenced in Ambry’s clinical laboratory, the report will be sent directly to your healthcare provider who will 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.
Steps to take for your genetic testing with Ambry Genetics

The science behind the Ambry Genetics test 

Ambry Genetics offers many different DNA tests. These tests can be generally classified into 3 categories: SNP array, targeted gene sequencing, and whole exome testing. In addition to DNA genetic testing, Amby Genetics also offers tests that combine DNA and RNA genetic testing.

To detect specific genetic variants across a patient’s genome, Ambry Genetics 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 genetic 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. Thee test sequence all of the roughly 20,000 genes in your genome. Though whole exome sequencing may sound comprehensive, this type of test actually examines less than 2% of the entire genome. 98% of the genome that are non-coding (often regulatory) regions are not sequencing. 

Ambry Genetics also offers various RNA genetic tests. For some diseases, Ambry offers paired RNA and DNA testing, which may increase the sensitivity of detecting mutations in a patient.

Genetic Counseling Services

Since performing genetic testing with Ambry Genetics requires you to contact a healthcare provider first, often you will be directed to a genetic counselor. 

Ambry Genetic offers free post-test genetic counseling for cancer patients that received results that confirmed a clinically significant mutation. The company also provides various counseling aids on its website, which may help to further explain the tests and results.

Ambry Genetics Cost

Let’s review the costs of the Ambry Genetics test. Its services are only available for patients residing in the United States. If your insurance covers genetic testing, you may qualify for free genetic testing. If your insurance does not cover genetic testing, Ambry will consider your personal financial situation before pricing the test, which they claim will be around $100 on average. You can check their patient billing page for more information. 

According to one Reddit testimonial, an Ambry Genetics test not covered by insurance 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 provider order an a kit, it is important to check the details of your health insurance plan. Sometimes, insurance providers deem testing not necessary, and you may receive surprise bills if you are not careful.

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

Review of Ambry Genetics DNA test results

In this part of our article, we will review Ambry Genetics reports. The DNA test reports are tailored for genetic counselors with relevant supplementary materials for patients depending on the results. Depending on the chosen tests, the report may look different, but the main sections of the reports are results, summary, interpretation, and assay information. 

The results section tells you whether there are any clinically significant mutations in the analyzed genes. If no mutations are detected, it will just say that no mutations were found. If a mutation is detected, details will be provided, such as the types of mutation. 

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

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

The assay information section describes how the genetic 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 negative result.
The first page of the CancerNext sample report showing a negative result.

If the test summary is positive, healthcare providers will be given additional information on relevant management resources. The patients are provided explanations of what their risk means 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.

There is a chance that the effects of the discovered mutation are not known because they are observed for the first time. These genetic variants are called “variants of unknown significance”. If this is the case, the report will be supplemented with inter-species comparison to show how likely that the mutation is dangerous based on its presence in various animal species. 

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

The sample reports, although available, are limited to the most frequently ordered tests. All sample reports can be accessed here.

Access to raw DNA data

Providing raw DNA data to their patients is not part of the Ambry Genetics service.

Review of Ambry Genetics Privacy

Any information that you provide to Ambry Genetics for your genetic testing may be disclosed among several parties without your permission. They include Ambry’s genetic counselors and affiliated healthcare providers. 

Your information will also be used for business operation purposes and be 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.

In the News

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

Ambry opened up genetic data of 10,000 patients in a database that continues to grow, called AmbryShare in 2016.

Ambry Genetics was sold in a deal worth up to $1 billion in 2017 to Konica Minolta, a Japan-based company. 

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

Ambry Genetics Reviews

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

Amry Genetics Pros and Cons

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

Nebula Genomics

In the final part of our Ambry Genetics review, we compare it to Nebula Genomics and other DNA tests. 

With 30x Whole-Genome Sequencing, Nebula Genomics decodes 100% of your DNA for only $299. In contrast, the most comprehensive test offered by Ambry Genetics is whole exome sequencing that decodes only 2% of the DNA.

Although Nebula does not offer a diagnostic test, our results are produced in clinical-grade (CLIA/CAP-accredited) labs. That means that the data can be used for health-related purposes. You can bring your raw DNA data to your healthcare provider or genetic counselors for further consultation. If you have a known genetic disorder in your family history, please consult with your healthcare provider first.

AspectsAmbry Genetics23andMeAncestryDNANebula Genomics
TechnologySNP array, targeted gene sequencing, whole exome sequencingSNP array SNP arrayWhole genome sequencing at 30x coverage
Ancestry analysesNoYesYesYes (deep ancestry analysis using Y chromosome and mitochondrial DNA).
Raw DNA data accessNoYes (23andMe file format)Yes (AncestryDNA file format)Yes (FASTQ, BAM, and VCF files)
Data upload optionNoNo (it was offered once but not anymore).NoYes
Data exploration toolsNoNoNoYes
Regular reporting updatesNoNoNoWeekly update tailored to your personal interest
Price$0 – $100 if covered by insurance; very expensive otherwise $99 – $499 $99 – $149$0 – $299

Ambry Genetics vs 23andMe vs AncestryDNA vs Nebula Genomics

Did you like our Ambry Genetics review? More reviews can be found here. If you are looking for clinical genetic testing, take a look at our Invitae, Myriad Genetics, Color Genetics, and GeneSight reviews.

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