• Genetic Testing 101

Genetic testing usually refers to the analysis of DNA to identify changes in gene sequence (deletions, additions, or misspellings) or expression levels. Genetic testing can also refer to biochemical tests for gene products (proteins) and for microscopic analysis of stained chromosomes. Genetic testing uses laboratory methods to look at genes, which are the DNA instructions that are inherited from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

How is genetic testing used clinically?


  • Diagnostic

  • Predictive

  • Pharmacogenomics

  • Carrier Testing

  • Genetic Testing
  • Diagnostic Medicine identifies whether an individual has a certain genetic disease. This type of test commonly detects a specific gene alteration but is often not able to determine disease severity or age of onset. Overall it is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help a patient make choices about how to treat or manage their health.

  • Predictive Medicine determines whether an individual has an increased risk for a particular disease. Results from this type of test are usually expressed in terms of probability and are therefore less definitive since disease susceptibility may also be influenced by other genetic and non-genetic (e.g. environmental, lifestyle) factors. Such information on the contrary may be useful in decisions about lifestyle and healthcare.

  • Pharmacogenomics (PGx) assists in reducing trial and error, side effects, adverse reactions, and perfecting dosage. With PGx testing, we can personalize patient’s medications by identifying which medications will work best and which to avoid all by using patient’s genetic information.

  • Prenatal Testing is offered during pregnancy to help identify fetuses that have certain diseases.

  • Newborn Screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

  • Carrier Testing is used to identify patients who have a genetic mutation that is linked to a disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene mutation to their children, who may develop the disease or become carriers themselves. This type of testing typically is offered to patients who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

  • Research Genetic Testing is used to learn more about the contributions of genes to health and disease. Sometimes the results may not be directly helpful, but they may benefit by helping researchers expand their understanding of the human body, health, and disease.

How many different types of genetic tests are currently available?

Thousands of genetic tests are available to physicians to aid in the diagnosis and therapy for many different diseases. Genetic testing is performed for the following reasons:
  • Diagnose Disease/Cancer
  • Identify gene changes that are responsible for an already diagnosed disease
  • Determine the severity of a disease
  • Guide doctors in deciding on the best medicine or treatment to use for certain individuals personalized medicine
  • Identify gene changes that may increase the risk to develop a disease
  • Identify gene changes that could be passed on to children

Genetic test results can be hard to understand, however geneticists and genetic counselors can help explain what results might mean to the patient and their family. Genetic testing gives information about DNA, which can be shared with other family members. Sometimes a genetic test result may have implications for blood relatives of the person who had testing.

What are genetic counselors?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They are an integral part of the healthcare team providing information and support to individuals and families who have members with birth defects, genetic disorders, or may be at risk for a variety of inherited disorders. Genetic counselors also serve as educators and a resource for other healthcare professionals and for the general public.

Protection Against Genetic Testing Discrimination

Genetic discrimination is considered the differential and adverse treatment of asymptomatic individuals based solely on their or their family members’ actual or presumed genetic characteristics. As genetic tests become more readily available, the potential grows for discrimination against people based on their genetic information. Genetic discrimination and the fear of it can have negative effects on the delivery of clinical care. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, protects individuals from genetic discrimination by health insurers and employers.

Title I of GINA prohibits group and individual health insurers from using a person’s genetic information in determining eligibility or premiums and prohibits health insurers from requesting or requiring that a person undergo a genetic test in order to collect genetic information on that person for underwriting decisions. Title II of GINA prohibits employers from using a person’s genetic information in making employment decisions such as hiring, firing, job assignments, or any other terms of employment; and prohibits employers from requesting, requiring, or purchasing genetic information about a person or their family members.

The AMA's Council on Science and Public Health recently examined genetic discrimination and GINA and identified gaps in protection and necessary steps toward strengthening protections. In addition, the AMA has developed a policy perspective on GINA, genetic discrimination, and needed improvements in laws protecting individuals from discrimination.

There have been a number of documented cases of people or their relatives who have lost jobs or insurance coverage based on reported genetic "abnormalities." Since the enactment of GINA’s health insurance and employment provisions, only a modest number of genetic discrimination complaints have been filed under its provisions; in 2013, 333 cases of genetic discrimination were filed out of nearly 95,000 total discrimination cases filed. It is possible that the small number of cases reflects the effectiveness of GINA at discouraging the practice of genetic discrimination in the health insurance and employment sectors, or alternatively, discrimination continues to occur but is unrecognized or unreported, possibly because awareness of GINA is low.

Besides GINA, other protections against genetic discrimination are:

Federal legislation

The first federal law to address issues relating to genetic discrimination was the Health Insurance Portability and Accountability Act (HIPAA) of 1996. The Americans with Disabilities Act (ADA) prohibits employment discrimination based on a disability, the history of a disability, or a perceived disability. However, it is not clear whether the ADA protects against genetic discrimination in employment decisions.

State legislation

Slightly fewer than half of U.S. states have laws providing additional protection against discrimination in aspects of life, long-term care, and disability insurance, as well as in other areas, that are not present in GINA. The NHGRI website provides a database of current state legislation relating to health insurance and employment discrimination as well as summaries and links to foreign laws and reports on issues of genetics.

Executive Order

In February 2000, President Clinton banned genetic discrimination when he issued Executive Order 13145 to Prohibit Discrimination in Federal Employment Based on Genetic Information. The Executive Order prohibits discrimination against any federal employee based on protected genetic information, or information about a request for or the receipt of genetic services. Similarly, internal policies of the U.S. military and the Veteran's Health Administration afford protections for these groups similar to those afforded by GINA.

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