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Genetic Testing and Counseling: Understanding Your Genetic Health

10월 30, 2024 - Written by Motion Tactic
Genetic testing and counseling

Genetic testing is an important tool for understanding your genes, uncovering key insights about your health and your risk for certain diseases.

Over the years, genetic testing technology has become more sophisticated, making it possible to not only gather detailed information about a specific gene and its impact on your health, but also to capture a comprehensive view of nearly every gene in your body.

This guide will walk you through what genetic testing is used for, the different types of tests available, and what to expect during a genetic counseling session.

What is genetic testing and counseling?

Genetic testing is used to screen for changes in your genes (also known as variants). It can be used to learn more about your health, predict conditions to which you may be predisposed, and inform your medical care.

Genetic testing can be ordered in a variety of ways:

  • Through your healthcare provider
  • Through a genetic counselor (this is only true in some states)
  • Online via a clinical test provider, which involves either your current health care provider or a telehealth provider
  • Online via direct-to-consumer test providers, which don’t involve health care providers

Genetic counselors are an important part of your health care team. They have advanced training in medical genetics and work directly with you to translate your genetic testing results in a way that is easy to understand.

The goal of genetic counseling is to give you as much information and clarity as possible so you can make sound decisions about your care plan based on your test results, your doctor’s guidance, and your genetic counselor’s recommendations.

What is genetic testing used for?

Genetic testing is used to tell you more about your inherited traits and genetic risk factors. This can be particularly helpful if you are trying to narrow down a clinical diagnosis for your symptoms and don’t know much about your family medical history.

People undergo genetic testing for a wide range of reasons:

  • To explore family history: Genetic testing can help determine whether you have a predisposition to certain hereditary conditions. For example, if you have a strong family history of a certain type of cancer or rare disease, you might be at higher risk for developing cancer or other genetic disorders. Screening tests can help provide greater clarity about your genetic risk for certain conditions.
  • To support a diagnosis: Genetic tests can be used to search for an accurate diagnosis for unexplained symptoms. Your health care team will conduct medical tests to help find or confirm a diagnosis. Genetic testing is an important tool that can potentially help to rule out certain conditions or provide clinically useful information for your provider. For example, if you have metastatic cancer but don’t know its source, genetic testing potentially help locate your primary tumor.
  • To inform treatment: Genetic testing can be used to guide and personalize your treatment. If you are diagnosed with cancer or a genetic disease, genetic testing can help inform your medical care. For example, some genetic tests can give you insights into how your cancer might behave. This can potentially help you avoid undergoing unnecessary treatments and their side effects.

Types of genetic testing

There are multiple types of genetic tests available, with each one serving its own unique purpose. Here are four common types of genetic tests.

Single gene testing

Single gene testing examines one specific gene to identify any patterns or abnormalities to confirm or rule out a suspected diagnosis. Healthcare providers might recommend single gene testing if you have a family history of a rare disease or if multiple family members are experiencing the same symptoms.

Examples of genetic conditions that can be detected by a single gene test include cystic fibrosis, Alport syndrome, and sickle cell anemia.

Genetic testing panels

Your health care provider might recommend a targeted gene panel test when it is more difficult to derive a clinical diagnosis based on your symptoms and health history. Your symptoms might match many different diseases, or the suspected diagnosis might impact more than one gene, as is the case with cerebral palsy and epilepsy.

Targeted panel tests look at a group of genes to identify gene changes that could provide greater clarity about a potential genetic cause for your symptoms. Because they look at more than one gene, they can be more cost effective when you are trying to narrow down a possible diagnosis. However, targeted panel tests often analyze less than 0.1% of your genome, so further testing might be needed in some cases.

Large-scale genetic testing

Large-scale genetic testing looks at larger sections of your DNA. This comprehensive view helps providers better understand more complex diseases and can be used if other types of genetic testing performed have not determined a genetic cause for your condition.

There are two different kinds of large-scale genetic tests: whole exome sequencing and whole genome sequencing.

Whole exome sequencing

Whole exome sequencing (WES) takes a broader look at your genetic information, sampling a greater portion of your DNA compared to standard panel tests, which look at only one or a few genes.

WES evaluates your entire exome, which accounts for 1-2% of your DNA. Researchers estimate that roughly 85% of all genetic variants that cause genetic diseases are located in the exome, however, the pieces of the genome that aren’t covered leave plenty of room for unanswered questions.

Whole genome sequencing

While all genetic testing options have benefits to better understand your medical information, whole genome sequencing (WGS) is the most comprehensive genetic test available. It offers genome-wide coverage that looks at more than 99% of your genetic information, which includes both the coding and non-coding regions. Because of this, it can identify genetic changes that other genetic tests might miss.

For example, more than a quarter of cancer patients have complicated genetic changes that may be missed by other types of genetic tests. Additionally WGS has been shown to identify genomic changes that led to a diagnosis in 19% of patients who remained undiagnosed post WES testing.

WGS gives you the most information possible so you and your provider can make more informed treatment decisions.

Benefits of genetic testing and counseling

Genetic testing and counseling have numerous benefits, including:

  • Personalized treatment guidance: Genetic testing can inform a more personalized treatment path. For example, if you have been diagnosed with cancer, WGS can uncover unique biomarkers that may be affecting your tumor, allowing for your tumor’s genetic profile to inform treatment selection.
  • Informed decision making: Genetic testing results can give you more knowledge about your condition and empower you to play a more active role in your care plan.
  • Clinical trial opportunities: Some types of genetic tests, such as genomic testing, can help identify unique biomarkers that might qualify you for access to clinical trials. This could expand the breadth of treatment options that are available to you.
  • Peace of mind: Genetic testing provides greater clarity about whether you’re at higher risk for certain diseases or if you have the genes associated with them. It can rule out a number of concerns and provide greater transparency around suspected genetic changes.

Genetic counseling: what to expect

Once you have your genetic test results, a genetic counselor can help you meaningfully interpret them and answer your questions. The goal of a genetic counseling session is to provide you with as much information as possible about your results and what they mean for your health.

During a genetic counseling session, you can expect to:

  • Meet with a knowledgeable expert: Genetic counselors have an advanced educational background in medical genetics and can provide support in understanding your genetic test results. This way, you can consider the findings in the context of your care plan.
  • Learn more about your results: Your genetic counselor can walk you through any significant findings step by step to help educate you on what they mean for your health.
  • Discuss viable options: The information discussed with your genetic counselor can help you consult with your doctor about treatment options that might best to target and improve your condition. You can also discuss the implications of your results for your family members.

Take control of your health with genetic testing

Genetic testing has several highly valuable functions, from understanding whether you are at an increased risk for a particular condition to personalizing your care for an existing medical concern.

It can be difficult for patients to fully digest genetic testing results and what they mean for their health and the health of their family members. Through Inocras’s digital service portal, you can request an order for genetic testing for cancer profiling and rare disease diagnosis. This platform connects you with a genetic counselor who can go over the results with you at no extra cost.

RareVision uses one of the most up-to-date databases of rare diseases to lead to an accurate – and faster – diagnosis. CancerVision provides predictive testing and a comprehensive report of genetic changes related to your cancer, which can help match you with related clinical trials.

Get one step closer to medical clarity. Order your Inocras test today.

References

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