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Is Genetic Testing Right For Me?

A woman looking thoughtfully at a DNA helix in a test tube. The caption: "Is Genetic Testing Right For Me?"

Assuming that you can find a geneticist with the expertise to test for connective tissue disorders, there are many factors to consider in determining if genetic testing is right for you. In this article we'll walk through several questions to ask yourself as you consider whether or not to pursue genetic testing.

While these questions are applicable for any condition, we'll use Ehlers Danlos Syndrome as an example to work through them for this post.

What is involved in testing?

The good news is that most genetic testing is not significantly risky and sometimes it isn't even painful. Genetic testing is typically done with either a saliva sample or a blood sample. Cheek swabs and blood draws are commonplace medical procedures that carry relatively few risks.

Is it dangerous not to get tested?

This depends on what your doctor is looking for. Most of the genetic variations of Ehlers Danlos Syndrome for example are not life threatening. If you have signs and symptoms of vascular EDS however, testing is more critical. In vascular EDS the connective tissue in a person's blood vessel walls is weakened. This can cause a bubble to form in the wall that can balloon outwards and eventually burst open. In medical terms, we call this an aneurysm.

If left untreated, an aneurysm can eventually rupture causing a person to bleed internally. While this might not be serious in the smaller veins that can leave unsightly bruising, there are some places an aneurysm can be fatal. If an aneurysm develops in the brain, or in a blood vessel that supplies blood to the heart like the aorta, a rupture is a medical emergency.

If you have a family history of aneurysms, or sudden unexpected deaths at younger ages it should be a red flag. Keep in mind that sometimes, deaths in the family may have been called a heart attack, and no one thought to look for aneurysms from EDS. The name for Ehlers Danlos Syndrome wasn't even suggested until 1936 (1) and was not commonly recognized for many years afterwards so many people went undiagnosed. Even today, the prevalence of EDS is difficult to estimate because many doctors are not aware of it, and many people have not been appropriately tested.

As a general rule, if your doctor recommends genetic testing, and you plan to not have it done, it's important to let your doctor know. If may change their treatment plan for you. If a person is suspected to have vascular EDS and decides not to get genetic testing, their physician may elect to order other screening related tests to make sure that important blood vessels like the aorta don't have aneurysms lurking unseen. This type of testing is sometimes better covered by insurance than genetic testing.

What does it cost?

The truthful answers is, "it depends". While some genetic testing is covered by insurance, for many insurances and conditions it is not. When it comes the Ehlers Danlos, most testing is not covered by insurance. While the cost of genetic testing has come down in recent years, it's still wise to ask in advance what the cost of the testing the geneticist is recommending will be.

There are several factors that can influence cost aside from insurance coverage. First and foremost, the cost will depend on how extensive of a genetic profile is completed. The geneticist may focus on testing for some genes and not others, genetic testing for connective tissue disorders is complex, and different providers may focus on looking for some genes and not others. Overall, as of 2024, testing will most likely cost somewhere between $400 and $2,000 for the tests themselves.

The price of your genetic testing may also include other extra services like a counselling session with a genetic counsellor. Some labs may also offer discounts to your family members to have follow up testing if you have your testing done there. This is more common when the lab is studying rare disorders. They often offer reduced price testing for family members if it is valuable to the lab because they are using the data for a research paper. In this case, the cost to the patient is essentially subsidized by the grant funding which may be covering some of the testing supplies or the time of the clinician administering the test.

Cost can also be influenced by travel. Finding someone with the expertise in the type of genetic testing you are seeking may require travelling. Fortunately, with the rise in popularity of telehealth services, even if the geneticist you want to see is not local, you may be able to see them via telehealth. The provider will then write an order for you to have the actual lab testing done at your local laboratory.

You may be able to negotiate your price. Offering to pay up front in cash may get you a discount. If an office has to pay their staff to spend time chasing you down, it costs them something. No provider wants to pay postage to mail four bill notices before they actually get paid. They especially don't want to have to pay a collections agency to get their money. Some offices inflate the up front pricing of their bill assuming that they will need to pay out these costs. If you offer to pay cash up front, they may be willing to knock some money off the price.

How long does it take?

The actual test itself is fairly quick, saliva tests and blood draws generally take less than half an hour to complete. The length of time it takes to get your results can vary. You'll want to ask the lab for your specific type of testing what the turnaround time is. It may be as short as 10 days, or as long as a few months depending on the test and the lab.

How does it impact my family planning?

If you are of childbearing age and a genetic testing confirms that you do have a genetic disorder, it may be advantageous to meet with a genetic counsellor. They can guide you on your next steps. Depending on the disorder, you may want to have your spouse/partner tested. There are also some traits that are less likely to be passed on to your children than others. A genetic counsellor will educate you on the probabilities of passing a specific gene to your children.

After learning this information, each person has to ask themselves if this influences their decision to have children. These are highly personal decisions for a couple. In the modern age, options for growing your family are more complex than a few hundred years ago. Having biological children naturally, and adopting children are no longer the only paths. This can lead couples to complex ethical conversations regarding surrogacy, in vitro fertilization, selective reduction of embryos, sperm/egg donors, and the degree of moral responsibility you have for your child's genetics.

If the person being diagnosed with the genetic disorder is female, that disorder may also have implications for pregnancy and influence their labor and delivery options. (Coming soon, See: Ehlers Danlos & Pregnancy)

Ideally, your genetic counsellor will help direct you to counsellors, OBGYNs, pelvic floor physical therapists, and other healthcare providers who can help you navigate these topics.

How does it impact my kids?

If you already have children and then have genetic testing done which confirms a genetic disorder, most parents' thoughts turn quickly to their children. When it comes to disorders like Ehlers Danlos, getting tested yourself may save your kids from having to pay to have the testing done. The diagnostic criterion for EDS specifically allocates points to having a first degree relative who has already received a diagnosis. This can make getting a diagnosis for your children significantly easier.

It also means that you have the opportunity to get your child treatment sooner than you did. Many adults who go undiagnosed with a disorder for a long time have many, preventable negative experiences. People often experience some degree of anxiety around symptoms that occur for unknown reasons. Having a name for a disorder can alleviate this and allows the child the opportunity to adjust to having the diagnosis. It may influence their ability to get treatment at a younger age. Depending on the disorder, this can slow the progression or prevent injuries.

For example, in Ehlers Danlos, getting a child into physical therapy early may prevent them from suffering with repeated sprains and joint dislocations. Having a diagnosable disability, may also help them gain access to accommodations in school if they are unable to perform a certain activity in gym class.

Parents getting diagnosed can also help reduce the impact of gaslighting for their kids. Many adults with Ehlers Danlos have painful experiences of interactions with healthcare providers, teachers/coaches, employers, and even their own families who did not believe them about their symptoms. (See: Medical Gaslighting: and what to do about it)

As a parent, you have an incredible opportunity to give your children a better life than you experienced. You also have the opportunity to lead by example. Getting good treatment for yourself models healthy habits for your kids so that they will know how to take care of themselves as they grow up.

Will it change my treatment?

This can vary widely by the genetic disorder you are being diagnosed with. Genetic testing helps to establish a genetic profile, but it isn't actually a treatment in and of itself. Whether or not the genetic testing influences treatment is an important factor in whether or not it is worth the investment.

To use Ehlers Danlos as an example, genetic testing helps to establish a genetic profile, but there are no prescription medications that specifically reverse the effects of a connective tissue disorder. While your doctor may prescribe some medications to manage your symptoms, you will have been aware of those symptoms without a genetic test. (See: Is Getting A Diagnosis Worth It?)

The primary treatment for Ehlers Danlos Syndrome is physical therapy. A skilled physical therapist will be able to see the hypermobility in a person's joints and treat it accordingly regardless of what the genetic typing is. When it comes to physical therapy, unless a person is specifically diagnosed with vascular EDS, genetic testing is unlikely to significantly change their treatment plan.

Can my genes be edited/treated?

There is hope on the horizon that gene editing technology may become available in the next few decades. Crispr technology was approved for the first time for clinical use by the FDA in December of 2023 to treat sickle cell anemia (2). Provided that it continues to be proven beneficial, it is likely that the FDA will begin to approve its use for other conditions.

This is a complex subject of medical ethics. The FDA is not likely to approve gene editing in children anytime soon. It will most likely begin to approve the technology's use for conditions that do not have other alternative treatments, and conditions that are life threatening or disabling first. Given that pharmacologic treatment options for EDS are limited, it may be one of the patient populations to receive earlier approval.

Will it legitimize my diagnosis?

This may or may not be an important factor in the decision to pursue testing. If the people in your life are supportive regardless of whether or not your diagnosis is confirmed by genetic testing, this may not be relevant. If on the other hand, people in your life are skeptical of your condition, genetic testing may help legitimize your diagnosis with family, friends, coworkers, bosses, and doctors. It is important to remember however, that genetic testing is not a perfect science. The human genome was officially completed in 2003 (3). The intent was to simply label all of the genes so that they could then begin to discover what each gene is responsible for. Genetic science is complex, and some genes interact with others which can affect what traits and disorders are expressed. It is important to remember therefore, that if genetic testing does not provide a diagnosis, it does not mean that a person does not have a genetic disorder. Genetic testing is more helpful for confirm a diagnosis, than it is to rule it out.

Will it help me to get accommodations at school/work?

While many schools and workplaces are willing to trust a person who comes forward with a disability and accommodate them, some are not. If documentation of your condition is required, typically a signed letter from your physician is sufficient to have your requests for reasonable accommodations met.

Employers are legally required to make reasonable accommodations for people with disabilities. It may be wise however before you ask for something to research what is legally considered "reasonable". If you insist upon needing an accommodation that is deemed to be unreasonable, it can be grounds for an employer to move towards letting you go. They can argue that you are unable to perform your job without an accommodation that is unreasonable and use it as grounds for termination.

If your doctor is hesitant to make a diagnosis without genetic testing however, you may need to have the testing, or look for a different doctor.

Your doctor's reluctance to make a diagnosis without testing may not be because they don't believe you. We need to remember that doctors are under a significant amount of pressure to make correct diagnosis to avoid liability claims. The expectation in medicine is perfection, or you open yourself up to a potential lawsuit. This makes many doctors inclined to defer to objective testing to support their documentation so that they are not personally liable for an incorrect diagnosis.

Will it help my disability case?

There are many factors that influence whether or not a person is deemed eligible for disability. Qualifying for disability is more difficult for some conditions than others. The process commonly involves initial rejections of your claim and repeated attempts to obtain disability. This can be time consuming and costly. If you are trying to get disability, it is best to consult with a lawyer regarding whether or not getting genetic testing adds value to your case.

Will it affect my insurance costs?

If you live in the United States, the Affordable Care Act provides specific legal protections against discrimination based on pre-existing conditions. While this may keep a company from denying a person coverage, it may factor into your premiums in the long run. Health insurance companies are a business. They have employees to pay, and often shareholders and investors to keep happy.

Insurance companies use complex algorithms to anticipate the cost of care for the people enrolled in their plans. That being said, the number of diagnoses that show on your chart may influence those algorithm calculations. The insurance company will anticipate on a large scale, what the cost to insure all of their participants will be, and what they will need to pay their employees. These costs are ultimately passed on to everyone who participates in the plan.

In short, while it may not increase your costs individually compared to another person, it may drive up the cost of insurance premiums for all participants as a whole.

Disclaimer: This post is intended for educational purposes only and is not a replacement for individual medical advice. If you are interested in obtaining personalized recommendations for your unique situation, click to book online and schedule an appointment fora physical therapy evaluation


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