The Role of Personal Genomics in Healthcare

Personal genomics is fast becoming an integral part of medical and health care, and the implications for consumers are becoming increasingly significant. From concerns regarding privacy and security to the clinical benefits and media coverage of genetic tests, there are many considerations that need to be addressed as the industry moves forward.

Educational benefits

One of the most important aspects of leveraging personal genomics in healthcare is education. This can be done through a variety of different means. In particular, medical students and graduate students should be exposed to genomics education. They should also be aware of the risks and benefits of genomic testing.

There are a number of companies that are developing applications to make greater use of genetic information. The Personal Genome Project is a global effort to create a public resource of health data. By combining personal genome sequences with health and environmental data, scientists can study these data and learn more about their potential to contribute to disease.

There is a growing need for improved genomics education. While the benefits of genomic testing are well documented, health care providers are often not prepared to engage with genomic services. A need assessment can help to identify areas that need attention and formulate curriculum goals.

Clinical utility of genomic diagnostic tests

There are many factors to consider in determining the clinical utility of genetic diagnostic tests. They include the purpose of the testing, the condition being diagnosed, the patient and the family, and the health care decision maker.

For many patients, a single genomic test may have little or no impact on the course of treatment. However, for others, a single genomic test can be crucial to understanding the diagnosis and the patient’s symptomatology. Genomics can also provide a better understanding of cancer risk and prognosis.

In addition to identifying the genetic causes of a disease, genomic testing can also inform care plans that include targeted therapies and surveillance plans. Genetic counseling and support can be important for educating and empowering patients.

The clinical utility of genomic diagnostic tests is based on the benefits of utilizing genomic information to improve the health of patients and their families. This includes the identification of inherited genetic conditions. It can also help to improve health outcomes by promoting prevention strategies.

Ethics and access oversight of genomic data sharing and access

Among the issues raised by the utilization of genomic data in healthcare is the ethical and access oversight of such practices. Although these issues are complex, they can be addressed through codes of conduct and other legal and regulatory safeguards.

There are two main categories of a code of conduct: one designed for data sharing and the other for access control. Both may be helpful. Nevertheless, neither is a panacea. In addition to addressing scientific and technical aspects of data sharing, codes of conduct should also address ethics and sustainability, as well as the impact on patients.

The dbGaP (Database of Genotypes and Phenotypes) at the National Institutes of Health (NIH) is an example of responsible genomic data sharing. It is a database that holds genomes and phenotypes of individuals from various populations.

Concerns about direct-to-consumer genomic profiling

Direct-to-consumer genomic profiling (DTCGT) has become increasingly available. This has led to concerns about its clinical validity. However, there are no definitive studies to determine the effects of DTCGT on patients. Moreover, the extent of influence will depend on the condition being tested.

For example, DTCGT may lead to unnecessary screening or surgery, as well as inappropriate self-treatment. In addition, a misinterpreted result can have negative physical and psychological consequences. Therefore, clinicians must be able to offer appropriate guidance to consumers who purchase DTC genomics products.

A recent study explored the effects of predictive genomic risk information from a DTC product. It found that, compared to controls, the intervention group had a lower level of worry about six conditions. Specifically, it found that participants worried less about colon cancer, type 2 diabetes, myocardial infarction, and obesity.

Media coverage

As the healthcare industry grows, the question of what is best for the patient becomes more pressing. In this context, genomics and phenotype matching have become more important than they once were. With an eye on the future, a few companies are trying to take the lead on this new frontier. Using genomics as a springboard, the industry is abuzz with new clinical, administrative, and financial models to take it to the next level. These include a new generation of health IT vendors, a slew of public and private partnerships, and new technologies that will rewrite the book on how we approach health care. The competition is stiff. It’s a battle of the brains that will take decades to play out.

Fortunately, we have a slew of big data analytics and smart technology to help us navigate this new frontier. Moreover, this is an opportunity to learn how to use genomics to better understand and treat our patients. Using this information, we can hone in on the most relevant medical, clinical, and behavioral factors to deliver the highest quality of care. This will be important as we continue to evolve as a species and the population ages.

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