23andMe, the ancestry genetic testing company, received the nod from the Food and Drug Administration (FDA) to provide Direct To Consumer (DTC) health reports early in 2017.
These reports inform customers about their genetic predisposition to certain diseases and conditions, that may or may not exist in the family history.
That was the first time the FDA approved a direct-to-consumer genetic test.
Three years back, the federal agency had banned the Silicon Valley-based company from providing health reports for lack of agency authorization.
As a result, the firm had stopped providing health-based genetic reports.
The company, however, continued to sell the ancestry reports and provided the uninterpreted genome raw data.
The raw genetic data is a list of all the genetic variants analyzed in the microarray chip, with their chromosome position and genotype.
When 23andMe discontinued their health reports, consumers began using this raw data to get health reports from other websites.
According to the FDA, 23andMe had produced satisfactory evidence to show that their health test is reproducible, and could correctly identify the genetic variants from a given DNA sample.
What are the traits covered in the 23andMe health report?
The 23andMe health report covers 4 main aspects:
- 10+ Health Predisposition reports
- 5+ Wellness reports
- 40+ Carrier Status reports
The FDA approved 23andMe health reports covers the following traits and conditions:
|Genetic Health Risk Report||Wellness Report||Trait Report||Carrier Status Report|
|BRCA1/BRCA2 (Selected Variants)|
Age-Related Macular Degeneration
Alpha-1 Antitrypsin Deficiency
Hereditary Hemochromatosis (HFE‑Related)
Late-Onset Alzheimer's Disease
|Alcohol Flush Reaction|
Saturated Fat and Weight
|Ability to Match Musical Pitch|
Asparagus Odor Detection
Back Hair (available for men only)
Bald Spot (available for men only)
Cilantro Taste Aversion
Early Hair Loss (available for men only)
Fear of Heights
Finger Length Ratio
Hair Photobleaching (hair lightening from the sun)
Light or Dark Hair
Misophonia (hatred of the sound of chewing)
Mosquito Bite Frequency
Photic Sneeze Reflex
Sweet vs. Salty
Toe Length Ratio
Agenesis of the Corpus Callosum with Peripheral Neuropathy
Autosomal Recessive Polycystic Kidney Disease
Beta Thalassemia and Related Hemoglobinopathies
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
D-Bifunctional Protein Deficiency
Dihydrolipoamide Dehydrogenase Deficiency
Familial Hyperinsulinism (ABCC8-Related)
Familial Mediterranean Fever
Fanconi Anemia Group C
Gaucher Disease Type 1
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Hereditary Fructose Intolerance
Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)
Leigh Syndrome, French Canadian Type
Limb-Girdle Muscular Dystrophy Type 2D
Limb-Girdle Muscular Dystrophy Type 2E
Limb-Girdle Muscular Dystrophy Type 2I
Maple Syrup Urine Disease Type 1B
Mucolipidosis Type IV
Neuronal Ceroid Lipofuscinosis (CLN5-Related)
Neuronal Ceroid Lipofuscinosis (PPT1-Related)
Niemann-Pick Disease Type A
Nijmegen Breakage Syndrome
Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
Phenylketonuria and Related Disorders
Primary Hyperoxaluria Type 2
Rhizomelic Chondrodysplasia Punctata Type 1
Sickle Cell Anemia
Tyrosinemia Type I
Usher Syndrome Type 1F
Usher Syndrome Type 3A
Zellweger Syndrome Spectrum (PEX1-Related)
How It Works
23andMe uses a saliva sample to analyze specific genetic variants in an individual’s DNA, that has been found to be associated with risk for diseases and conditions.
The final report contains information on whether an individual has the variants associated with those genetic disorders.
This may also include information like the percentage lifetime risk of developing a certain condition.
What the report cannot tell
Just the presence or absence of a gene variant is not always relevant for people to develop the condition.
Genetic risk is among several risk factors for any given condition.
This is the case with any genetic test and not just the 23andMe health test.
The challenge lies in educating the customers on the correct way to interpret consumer health genetic test results.
In the clinical scenario, genetic testing is often only used in cases where routine tests give ambiguous results or as supportive evidence.
The concern is that individuals may make changes to their lives solely based on these reports.
The development of a disease or a condition also depends on factors like the environment and lifestyle.
Microarray genotyping, the test on which the 23andMe health reports are based, looks at specific gene variants that have been linked to these diseases.
It does not examine the entire genome.
The FDA has instructed 23andMe to include information describing the limitations of these tests in the reports and website from where people can make an informed decision.
How accurate is the 23andMe health report?
It identifies genetic markers known as single-nucleotide polymorphisms (SNPs).
SNPs are positions along the DNA chain where genetic variations commonly occur.
Since the reports are based on SNPs they may be more applicable to certain populations than others.
This means that the information covered in the report may not be relevant for all ethnic groups.
For example, the 23andMe BRCA report covers 2 mutations in the BRCA1 gene and one in the BRCA2 gene, all of which are prevalent in the Ashkenazi Jewish population.
True that these are among the most well-studied gene mutations, but they still only account for a small fraction of hereditary breast cancers in the USA.
The same applies to Gaucher’s disease type 1.
Is a 23andMe health report worth it?
Reports with information on variants associated with neurodegenerative diseases including Alzheimer’s and Parkinson’s could take an emotional toll on the customers.
The 23andMe health report covers the APOE e4 variant, the strongest known genetic link for Alzheimer’s disease.
Genetic testing for APOE e4 gene variants is usually done for supportive evidence accompanying other clinical tests.
As mentioned before inheriting the risk APOE gene variant does not imply the development of the disease.
Before viewing results for Parkinson’s or Alzheimer’s disease, customers are made to read an online disclaimer
Alternative to the 23andMe health report
The 23andMe Health + Ancestry test is currently costs $199.
Yet, 23andMe is not the only company providing DNA-based health reports.
Popular third-party raw data analysis tools offer 10 times the information as 23andMe for free or a nominal price.
In this section, we describe Xcode Life’s health reports.
Xcode Life currently offers 12 reports spanning 700+ health-related categories.
|Gene Nutrition||33+ categories that will help you make simple dietary changes to help your lifestyle in the long-run.||$20|
|Gene Fitness||15+ categories to guide you in making the correct exercise choices.||$20|
|Gene Health||50+ health conditions. This report now includes all the health risk traits covered in the 23andMe health report||$20|
|Gene Allergy||15+ allergy predispositions. This report covers common allergies like, animal dander, pollen, food allergies and some lesser known ones like misophonia and histamine intolerance.||$20|
|Precision Medicine||Know your metabolizer status for more than 150 drugs.||$40|
|Gene Skin||25+ skin conditions. Expert-curated and scientifically sound tips on how to tackle them.||$20|
|MTHFR||This report matches MTHFR status and its influence on the main Methylation pathway.||$20|
|Carrier Status||Know your risk alleles for more than 250 inherited health conditions.||$40|
|Traits & Personality||30+ personality traits to help you understand yourself better.||$20|
Here is why Xcode Life’s health reports are consumers' favorite:
- Xcode Life’s raw data analysis tool is compatible with DNA raw data from all major DNA testing companies.
- Xcode accepts both genotyping and whole-genome sequencing-based raw data files.
- New reports are added to the portfolio and existing reports are updated regularly to include new features.
- The reports are expert-curated from ClinVar, OMIM, UK Biobank, and other such reputed scientific databases.
- Reports are delivered within 24 hours of uploading the correct raw data file.
Don't trust us? Take a look at what our customers say!