I think Shakespeare had it wrong. Or at the very least, his sentiment can't be universally applied. To Juliet and generic cereal versus name brands, sure, a name doesn’t count for much. But to many on a genetic odyssey, it’s everything.
A diagnostic odyssey is defined as the time between when a symptom or feature of a genetic or rare disease is noted to the time when a final diagnosis is made.
In some cases, this journey is relatively short: for example, from the finding of a heart defect and shortened long bones on a prenatal ultrasound to the confirmation of Down syndrome in a pregnancy after an amniocentesis. This journey tends to be brief, yet no less arduous and potentially heart-breaking for the patients.
For others, their journey can be years, requiring multiple visits to various medical specialists, while each day old symptoms progress, new ones develop, and the patient's overall quality of life deteriorates.
Reducing the time between initial symptoms and a final diagnosis can provide numerous benefits such as tailored management recommendations, school and government agency support, and specialist referrals. Early diagnosis, treatment, and support allow patients to maximally benefit from referrals and services.
This is obvious in genetic testing for conditions such as a hereditary cancer syndrome, in which cancer screening recommendations and treatment are often directly impacted by the results of this testing.
But what about in the case of those seeking a confirmation of something like hypermobile Ehlers-Danlos syndrome (hEDS), a condition for which the causative gene(s) are unknown and treatment options and recommendations are not significantly impacted by a clinical diagnosis?
I bring up this condition specifically as genetic clinics have become inundated with requests for hEDS consultations. Given that the wait time for appointments in a genetics clinic is often months long, some clinics have elected to turn these patients away, arguing the above sentiment; that a clinical diagnosis does not change their medical management.
Disclaimer: I am not judging any clinic that has felt the need to triage patients in a particular manner. It's clearly documented that there is a significant shortage of genetic counselors relative to the number of patients in the world. If anything, I find fault in a dysfunctional Congress who is sitting on a bill entitled S.2323 - Access to Genetic Counselor Services Act of 2023, which is designed to increase access to genetic counselors.
Yet I would argue that there is an identity in a name, a sense of community to a group who knows what you are dealing with, and a validation that what you have and are experiencing is real. I think this is particularly poignant in a group in which the symptoms are sometimes deemed less concrete by medical professionals. You can visualize a cleft lip, you can quantify intellectual disabilities, and you can measure excess copper levels in a patient’s blood. But chronic pain, autonomic dysfunction, and mental health issues - those are harder to appraise.
And with a diagnosis can come an understanding of the disease, it provides context for a patient’s daily existence and can be an buoy on which to hold onto as their disease rages around them.
So rather than Shakespeare, and don't get me wrong,10 Things I Hate About You is a personal favorite of mine, when it relates to genetics, perhaps the words of Sun Tzu may be more applicable,
“If you know the enemy and know yourself, you need not fear the result of a hundred battles. If you know yourself but not the enemy, for every victory gained you will also suffer a defeat. If you know neither the enemy nor yourself, you will succumb in every battle.”
So what can a patient do to best prepare for battle?
Understand the value of genetic testing by talking to a genetic counselor, who not only knows of the existence of these tests but can guide a patient through the benefits, limitations, and risks of pursuing them. They also know if alternative access to testing, including labs that offer sponsored testing, may be available.
Take a moment to self-reflex and ask:
What am I worried about? and perhaps more importantly,
What am I going to do with this information?
Don’t give up. Remember, if Odysseus did, he'd be at the bottom of the ocean.
Advocate. Advocate. Advocate. Despite what is to come in the next paragraph, you are really the only one you can count on to have your best interests at heart.
And what can a provider do to best help a patient with this battle?
In some cases, while medical management may not change, molecular genetic testing for other conditions is a method by which to exclude an alternative diagnosis, which is required for a clinical diagnosis. Personally, I'd prefer that testing be ordered by a genetic specialist than a proxy.
Remember why you got into your field. Presumably, it was to help. And while most healthcare professionals don't actually say the Hippocratic Oath, I like to believe that most abide by its promise to “help the sick, and …abstain from all intentional wrong-doing and harm”. Your patients are not coming to you for a social visit. They don't find joy in this odyssey; it’s hardly a Disney Cruise they’re on. So:
Be the subject matter expert they are relying on.
Refer to a subject matter expert, including a genetic counselor, if you are not the one your patient needs. And if you are a genetic counselor who does not see this specialty, have the names of your colleagues that do. Don't inadvertently lengthen a patient's journey by not doing so. Anything that doesn't actively help can potentially harm.
Be kind and have patience - it can go a long way both inside and outside of an exam room or counseling session.
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