Direct to Direct Genetic Testing: A Boon Or A Privacy Nightmare?

Direct-to-Direct genetic testing or Direct to Consumer genetic testing (DTC) is a type of genetic testing that is marketed directly to consumers, without the involvement of a health care provider. DTC tests can be purchased online or in stores and can provide information about a person's genetics, such as ancestry, common traits, health risks, and health traits.

DTC tests are typically advertised and sold directly to consumers through television, Internet or print advertisements. Companies like 23andMe, AncestryDNA, and MyHeritage have transformed genetic testing from a clinical service to a personal tool available at the click of a button.

Upon ordering a test, the consumer receives a sample collection kit (i.e. buccal swab or blood spot collection) from the testing company. The consumer sends back the sample; the company performs the test and sends a test report via the Internet or mail back to the consumer.

While DTC testing increases the awareness of the public regarding their risks for hereditary conditions and risk-reducing options such as screening and lifestyle modifications, it also may generate confusion, anxiety and even false reassurance. Geneticists and genetic counselors work with individuals or families who have genetic diseases, who are at risk for such a disease, or who wish to learn about their genetic history.

Why Genetic Testing Is A Boon? 

Previously Genetic testing was limited to clinical settings, genetic testing is now affordable and accessible from home, democratizing science. Genetic testing can give you information to help guide the decisions you make about the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as fragile X syndrome or information about your risk of developing cancer. There are many different kinds of genetic tests. Genetic tests use a blood or spit sample, and results are usually ready in a few weeks.

Genetic testing is being considered as a boon as it allows to know that whether a person have a genetic disease that runs in his family before the symptoms appear.  These tests help people trace their lineage, uncover ethnic roots, and even reconnect with lost relatives. It can reveal the Genetic condition of future child. PGS is a recent development in ART that is used to assess the genetic profile of the embryo before it is implanted into the mother’s uterus, thereby increasing the chances of a healthy baby. Genetic testing play a major role in planning of cancer treatment. Genetic tests are often conducted when there is a family history of a genetic disease or to determine a genetic cause for certain symptoms.

Clinical Versus Direct-To-Direct Genetic Tests‎

Clinical genetic tests are different from direct-to-consumer (DTC) genetic tests. Clinical genetic             tests can be ordered only by healthcare provider for a specific medical reason—customer/patient cannot order them by their own.

• A clinician performs clinical genetic testing, while the consumer performs DTC genetic testing.
• A clinician takes a sample from the patient, while the consumer sends a sample to the DTC company.
• Clinical genetic testing is intended to diagnose and treat diseases, while DTC genetic testing can provide information about health and ancestry

DTC test results can be used to make decisions about lifestyle choices or identify issues to discuss with your healthcare provider. However, DTC tests cannot determine for certain whether a person will get a disease or not. Nor should these tests be used alone to make decisions about treatment or medical care or in place of clinical genetic testing.

Genetic Testing A Privacy Nightmare

Direct-to-consumer genetic testing (DTC-GT) companies are engaging health consumers in unprecedented ways and leveraging the genetic information they collect to further engage health companies. This has produced controversy about DTC-GT consumer expectations, standards, and perceptions of privacy. Study shows that the mere provision of genetic health risk information without a health care intermediary can lead to potential psychological effects in DTC-GT consumers. Primary care physicians are skeptical of DTC-GT and concerned about the ethical, legal, and social implications of genetic testing, namely, privacy and confidentiality issues. 

Genetic data is highly sensitive. If compromised, it can be misused by hackers or unauthorized entities, potentially leading to identity theft or discrimination. Many DTC companies share genetic data with pharmaceutical companies or researchers, often without explicit user consent. Even anonymized data can sometimes be re-identified. Although laws like GINA (Genetic Information Nondiscrimination Act) exist in the U.S., they do not cover life insurance or long-term care policies, leaving individuals vulnerable.

Terms of use agreements and privacy policies of companies providing DTC genetic testing services are sometimes referred to as “click-wrap” or “browse-wrap” agreements. These agreements are concerning because, although they are time-convenient, they are sometimes written at college reading levels that can be difficult for some consumers to read and comprehend. It is therefore questionable as to whether consumers fully or partially understand DTC-GT company consumer policies and agreements even when consumers take time to read them.

DTC tests may not always provide precise or medically actionable data, potentially leading to unnecessary anxiety or false reassurance. Discovering unexpected family relationships or genetic risks can lead to emotional distress and ethical challenges.

Overcoming Nightmare Of Direct To Direct Genetic Testing

There are a numerous applications and advantages of direct-to-consumer genetic testing but they are not free from controversies and pitfalls. Customer always has a fear of privacy of his genetic data. To overcome these unwanted risks customers should read privacy policies carefully and understand how their data will be used. Also government need to establish more stronger and stricter laws governing the use and sharing of customer genetic information so that trust can be built among  customers and they can avail such services without any fear.

Companies providing the services of genetic testing must adopt robust cybersecurity measures to protect sensitive genetic information. Providers should offer counseling services to help users interpret results and navigate emotional impacts.

Summary

Direct-to-consumer genetic testing is a double-edged sword. While it offers groundbreaking opportunities to explore health and heritage, it also exposes individuals to significant privacy and security concerns. As technology evolves, striking the right balance between innovation and ethical responsibility is crucial to ensuring that this powerful tool remains a boon, not a nightmare.