SUMMARY:

Direct-to-consumer (DTC) genetic testing happens outside the clinical setting. DTC tests are marketed directly to consumers who may then choose from companies that can look at different health conditions, traits, and ancestry. There are benefits but also risks related to DTC tests. Multiple professional societies have come with guidance regarding the adoption of these tests and their role in patient care.

Role of FDA

• The FDA 
  • Regulates tests used for treating and diagnosing disease
  • Reviews some DTC tests that will be used for medical purposes
  • Does not review DTC tests for non-medical or general wellness

Types of DTC Tests

Health Related

• Disease Risk
  • Examples: Parkinson or Alzheimer disease
• Health Traits
  • Examples: Metabolism and weight gain
• Carrier Status for Genetic Conditions
  • Examples: Sickle cell trait or heritable cancer syndromes (e.g., BRCA gene changes)

Note: A DTC test might not provide a complete assessment risk, as some DTC companies may limit their analyses to specific mutations and/or do not take in to account an individual’s background risk

Ancestry

• Provides a consumer with information about individual genetic ancestry
• Ancestry testing is not used for medical decision-making

Lifestyle

• Examples: variations in a person’s DNA are analyzed to provide information regarding fitness, metabolism, weight loss, nutrition, and food preferences

DTC Benefits and Limitations

Benefits

• Can give a person a broader awareness of genetic diseases and allow personalization of individual health based on a risk assessment
• Takes into account patient schedule
  • Usually a simple saliva kit, where the sample then gets mailed to a lab
• Data are kept in a database that can help further research

Limitations

• Without professional genetic counseling, tests may be performed but not for specific conditions that are clinically appropriate for the patient
  • Cancer genetics can have a level of complexity where trained genetic professionals can help determine testing as well as choice of lab
  • There is the potential for individuals to make life altering health decisions based on inaccurate information
• Risk assessment tests are not necessarily diagnostic
  • Tests can identify DNA changes that may increase risk for certain disorders but cannot provide definite answers regarding whether a disease will manifest
• Current oversight and regulation of DTC companies remains limited
• Privacy remains an issue for commercial DTC labs
  • Patients may not always be aware who has access to data and information

Raw Data

• When a genetic test is run, DNA can be stored as ‘raw data’ in a computer file
• ‘Raw’ data describes the genetic information in its raw form, before it’s interpreted by experts
• Some DTC companies may release or sell raw data
• Other third-party companies provide a service that will interpret your raw data, which potentially includes even more information about disease risk, ancestry, and traits

Professional Recommendations

• Pretest counseling should include a discussion of privacy concerns, issues related to insurability, and what will happen to the genetic data should the company be purchased or closed
• If a specific disease risk is identified, referral to a genetics specialist or a healthcare professional who can interpret the genetic results is advised
• Medical intervention should not be based on a DTC test result
  • Any DTC result should be confirmed in a certified laboratory

ACMG

• ACMG updated a previous statement to include recommendations specific to DTC and multigenic disorders
• Predicting clinical severity and managing monogenic (single gene) disorders such as cystic fibrosis can be complicated; however, inheritance risk is typically understood
• Disorders controlled by multiple genetic loci are often complex and environment often plays a significant role
  • Examples of multigenic disorders: Schizophrenia | Cardiovascular disease | Complex heart disease | Diabetes mellitus (especially type 2) | Alzheimer disease
  • Genetic testing can at best ‘infer’ risk but definitive diagnosis is not possible currently
• ACMG states

As a result of increasing data points, the need for interpretation of and counseling about any type of genetic testing regarding these disorders has become exponentially more complex, and in most instances, is not a part of general clinical genetics practice

In this context, the emergence of direct-to-consumer testing for multi/polygenic diseases is particularly troubling

…the ACMG is of the opinion that prenatal testing for disorders that exhibit multigenic or polygenic inheritance is not yet appropriate for clinical use and should not be offered as direct-to-consumer testing

ACOG

• Clinicians may be confronted with DTC testing that has already occurred
  • Results should be reviewed by a healthcare professional with experience and training
  • Results should be interpreted based on the patient’s personal and specific family history
• DTC genetic testing has the capacity to identify issues that may have implications for other family members
• ACOG states

The American College of Obstetricians and Gynecologists discourages direct-to-consumer genetic testing without appropriate counseling

Given the insufficient data to support the use of single nucleotide polymorphisms (SNP) testing for medical purposes, SNP testing to provide individual risk assessment for a variety of diseases or to tailor drug therapy outside of an institutional review board-approved research protocol is not recommended

The American College of Obstetricians and Gynecologists recommends that the use of these technologies be viewed as investigational at this time 

Learn More – Primary Sources

Direct to consumer tests (FDA)

ACP Position Paper on Direct to Consumer Genetic Testing  

ACMG: Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics

ACOG Committee Opinion 816: Consumer Testing for Disease Risk

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)

AACC: Direct-to-Consumer Laboratory Testing

FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes

MedlinePlus Genetics: Direct-to-Consumer Genetic Testing