Breaking Down Genetic Testing: What Patients and Families Need to Know

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Genetic testing can be a powerful tool for diagnosing rare diseases, understanding hereditary risks, and guiding treatment decisions. However, for many patients and families, the process can seem overwhelming or confusing. This blog will break down what genetic testing is, the different types available, how to access testing, and what to do with the results.

What Is Genetic Testing?

Genetic testing analyzes DNA to look for changes (mutations) that may cause or contribute to a disease. These tests can help:

  • Diagnose a genetic condition

  • Identify potential risk factors for inherited diseases

  • Provide guidance for treatment options

  • Inform family members about possible genetic risks

Genetic testing is often recommended for individuals experiencing unexplained symptoms, those with a family history of a rare disease, or those who need confirmation of a suspected diagnosis.

For more detailed information on genetic testing, organizations like the National Human Genome Research Institute (NHGRI) provide helpful resources (NHGRI).

Types of Genetic Testing

There are several types of genetic tests, each serving a different purpose:

  1. Diagnostic Testing – Confirms whether a person has a specific genetic condition when symptoms are present.

  2. Carrier Testing – Determines whether a person carries a gene mutation that could be passed on to their children.

  3. Predictive & Presymptomatic Testing – Identifies whether a person is at risk of developing a genetic disorder before symptoms appear.

  4. Newborn Screening – Conducted at birth to check for certain genetic conditions that may require early intervention.

  5. Pharmacogenomic Testing – Helps determine how an individual’s genetic makeup affects their response to medications.

  6. Whole Exome & Whole Genome Sequencing – More comprehensive tests that analyze large portions of DNA to find rare mutations.

For an in-depth breakdown of these tests, you can visit the U.S. National Library of Medicine (MedlinePlus).

How to Access Genetic Testing

Step 1: Speak with a Doctor or Genetic Counselor

  • Your healthcare provider or a genetic counselor can determine if genetic testing is appropriate. A genetic counselor helps interpret results and guides decision-making. You can find a certified counselor through the National Society of Genetic Counselors (NSGC).

Step 2: Choose the Right Test

  • The type of genetic test depends on your medical history, symptoms, and family history. Some tests are ordered by doctors, while others, like direct-to-consumer genetic tests, are available without a prescription. However, clinical testing ordered by a doctor is typically more reliable and actionable.

Step 3: Get the Test Done

  • Most tests involve a simple saliva or blood sample. Some tests may also require a cheek swab or tissue sample. The sample is sent to a laboratory for analysis, and results can take anywhere from a few days to several weeks.

Step 4: Understanding the Results

  • A genetic counselor or doctor will explain whether mutations were found and what they mean. Not all mutations cause disease, so expert interpretation is crucial.

Costs and Insurance Coverage

Genetic testing can range from a few hundred to several thousand dollars, depending on the complexity of the test. Many insurance plans cover genetic testing if it is deemed medically necessary. Organizations like Rare Genomics Institute can help connect patients with resources to access testing when financial barriers exist. (Rare Genomics Institute).

For financial assistance options, the Genetic and Rare Diseases Information Center (GARD) provides a list of organizations that help with testing costs (GARD).

What to Do After Receiving Genetic Test Results

  1. Review Results with a Professional – A genetic counselor can explain the findings and next steps.

  2. Inform Family Members – If a genetic condition is inherited, relatives may also want to consider testing.

  3. Explore Treatment Options – Some genetic conditions have targeted treatments or clinical trials available.

  4. Join a Support Network – Connecting with advocacy groups and rare disease communities can provide valuable support and resources.

Rare disease communities like RareShare, the support network created by Rare Genomics Institute, can help individuals connect with others facing similar conditions (RareShare).

Final Thoughts 

Genetic testing is an essential tool for those navigating rare diseases. While the process can seem complex, understanding the basics can help individuals and families make informed decisions. Whether you’re considering testing for yourself or a loved one, seeking guidance from trusted professionals and organizations can make a significant difference.

For more information or assistance with accessing genetic testing, visit Rare Genomics Institute







Disclaimer

The organizations and resources mentioned in this blog are provided for informational purposes only. Rare Genomics Institute does not endorse, sponsor, or have any official affiliation with these entities. Readers are encouraged to conduct their own research before engaging with any third-party organization.

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Nic Albright

Copywriter

Nic is a Product Manager and Marketing Copywriter at the Rare Genomics Institute where he works to provide insight into topics relating to product management, product marketing, social media, content strategy, and copywriting. With over a decade of marketing leadership experience across tech, automotive, and specialty retail, paired with supporting education from UC Davis, Nic brings a vast amount of interdisciplinary knowledge to the organization. As a life-long science lover, Nic finds purpose in lending his skills to assist in driving the Rare Genomics cause.Outside of Rare Genomics, Nic is a homeschool educator, board member of a national STEM organization, and Managing Director of a digital marketing startup in Winston-Salem, North Carolina.