by Robert Resta, Jennifer A. Sullivan, Allyn McConkie-Rosell
Allyn McConkie-Rosell, Ph.D., CGC, is a Professor in the Division of Medical Genetics at Duke University Medical Center. Jennifer A. Sullivan, MS, CGC is a
Senior Genetic Counselor in the Division of Medical Genetics at Duke University Medical Center. Robert Resta, MS, CGC, is a genetic counselor at Swedish Medical Center in Seattle and a frequent contributor to The DNA Exchange.
The Diagnostic Odyssey – that meandering, lengthy, and frustrating quest for a diagnosis. Genetic counselors, medical geneticists, and patients with rare disorders and their families are achingly familiar with it. The allusion to Homer’s Odyssey is apt. Odysseus’s decade of wanderings are replete with perils, disappointment, love, wonder, whimsical gods, adventure, and frustration. Surely some specialist somewhere in the world can tell me what condition my child has been born with, and I will brave the wine dark seas for as long as I must to find that expert! Genetic testing technologies like whole exome/genome sequencing have shortened the quest for many patients, though perhaps not as often as one would have hoped.
The label Diagnostic Odyssey suggests that the diagnosis is the end of the odyssey. And therein lies the problem. Many families and patients discover that a diagnosis does not necessarily allow them to settle down happily with Penelope in the kingdom of Ithaca. A successful diagnostic workup may be the end of the odyssey for clinicians, but for patients and families the diagnostic quest is just one phase in the life cycle of genetic disorders.
A diagnosis may answer some questions such as cause and recurrence risk, but it can also create a whole new set of issues. For patients diagnosed with ultra-rare conditions, families may be faced with frustration from a lack of available knowledge about treatment or prognosis. Even if medical interventions are possible, finding and accessing those resources, and getting health insurers to pay for them, can be a major undertaking. Or a condition’s rarity may make it impossible to form an effective patient/family community to provide advocacy and support. The diagnostic odyssey may result in some patients feeling like diagnostic oddities.
If a newly diagnosed syndrome turns out to be untreatable or life-shortening, parents may lose all hope and descend into existential despair. A non-diagnosis at least holds the glimmer of a chance for a treatment or cure out there somewhere. Patients who have a diagnosis changed from a previous incorrect diagnosis may lose the sense of identity and support supplied by the disease community that they had been involved with for years.
The label Diagnostic Odyssey focuses on one medical aspect of a condition. Clinicians can take much-deserved professional satisfaction in having finally solved a long-standing mystery. But for many families, living with a genetic condition is not a temporally demarcated event and, above all, not only a medical experience. Patients will also still need to implement strategies and solutions to the social, educational, lifestyle, and psychological ramifications of the disorder. It is an ongoing journey, one that continues to unfold as patients age and develop new symptoms, family structures evolve over time, medical treatment advances, and sociocultural changes re-shape attitudes toward inclusivity and the availability of resources. A genetic condition, named or not, will continually present new challenges throughout the entire life of a patient.
We do not mean to imply that a diagnosis is unimportant. We recognize the emotional and potential medical value of finally “putting a name on it.” But the name just points the ship in a new direction to unexplored regions with different threats, problems, and rewards.
Perhaps the Diagnostic Odyssey label needs to be retired or renamed to more accurately reflect its role in the process of living with, and adapting to, genetic conditions. So we turn to the Good Readers of The DNA Exchange to offer their suggestions – what do you think?
Genetic Counselor Talent Show Friday, November 16th
Are you attending the 2018 Annual Education Conference of the National Society of Genetic Counselors in Atlanta next week? Worried that days of PowerPoint presentations and polite applause will make you forget what fun is? Want to have a blast one evening and see your genetic counseling colleagues in a very different light? Then attend the Genetic Support Foundation’s GC’s Got Talent 2018 genetic counselor talent show on Friday evening November 16th. Cancel all your other evening plans for Friday, November 16th. Trust me – there will be nothing even close for entertainment. With Yours Truly, Bob Resta, as Master of Ceremonies, how could anything beat it? Can you dance, sing, or play an instrument? Are you a Slam Poet? Then show off your talents to your colleagues! Or, if like me, you have Zero Talent, then join me as part of the Story Telling Crew. I have a goofy and weird story to tell. But we all also have poignant, tragic, comic – or all of the above – tales to tell. If I can do it, then you can do it. If you wish to impress your colleagues with your talent, send an email to info@geneticsupport.org to sign up. Show up et regarder les bon temps rouler.
For more information, visit: https://geneticsupportfoundation.org/gc2018
The DNA Exchange 
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Amen! This is along the lines of what I presented recently on behalf of Cambridge Rare Disease Network (https://camraredisease.org/) at the Wellcome Genome Campus Hackathon (https://twitter.com/stevedesigner/status/1013716158338469889)
A genetically determined diagnosis is not a panacea for rare disease by any means (but it is a start!)
Agree with a lot of this but would suggest that in this internet-connected world, even the rarest of the ultra rare can still have some hope of finding each other.
My child is one of 4 in the UK severely affected by a variant on one particular gene, all diagnosed in the past year. We have been able to find each other, and link up with about 35 others around the world, thanks to the power of Facebook!
Thank you for putting pen to paper on this important topic. As a mom of a child who died before being diagnosed with what turned out to be a rare disease I *dislike Genetic Odessy. Comments about now that I have a name I can find closure fall on deaf ears. The term leaves me with the feeling that the geneticists are only in it to name it and then done however once diagnosed I expected the genetics department to connect me to research, to others with the disease, connect me to rare disease orgs etc. but that wasn’t part the reveal. Complex Care isn’t enough for our rare children – an integrated health team that includes research (treatments), complex care, palliative care need to work in the background while we the caregiver work with the daily realities. Because of my experience of acute care, genetics, primary care letting my son fall through the cracks I wrote about the importance of pediatric palliative care in our story. http://pediatrics.aappublications.org/content/141/6/e20173417
They picked up where others couldn’t and helped w the day to day. Still is that the ‘right’ part of the health system to pick up the slack? I’d argue no – diagnosis or not integrated care teams are what families need from birth. Teams that include genetics, research and care.
Thank you for writing such an important piece.
Thanks for this thoughtful post. I think ‘diagnostic odyssey’ can be an appropriate-enough term for individuals who find that they are primarily driven by a desire to determine an etiology for their child’s (or their own) illness. I think a lot of genetic professionals identify with this mindset and thus we have come to embrace the term. As a whole we are uncomfortable with uncertainty and ambiguity (although we are surrounded by it!!).
The truth, is, however, that many parents are far less interested in finding ‘the reason’ and instead focusing on ways to improve their daily lives and the health of their child. Or, perhaps they were motivated to know an etiology in the beginning but have since found ways to cope with and maybe even appreciate the uncertainty surrounding their child’s condition.
Ultimately it’s another example of how we need to keep our minds and ears open in our practice. The question ‘how are you thinking/feeling about this?’ is almost never not useful.
Thanks
Thanks for sharing. Good Post