Nicolas Garnier, Chief Patient Officer of the Servier Group, shares his views on the challenges involved in the diagnostic odyssey, a distressing ordeal for patients.
As Chief Patient Officer, I’m in regular contact with patients and patient associations. Through their comments and experiences, I have come to understand that many people are not getting their condition diagnosed quickly enough. The often lengthy and costly phenomenon of the diagnostic odyssey is a major burden for patients and health care systems around the world. I believe, however, that solutions do exist to reduce the time spent in diagnostic drift!
Understanding the diagnostic odyssey and the issues involved
First of all, we need to understand the concept of diagnostic odyssey. This refers to the period during which a patient has not received a clear diagnosis of his or her illness. This situation is particularly common among patients with rare diseases, where symptoms are often multi-faceted, vary from one individual to another, and are non-specific.
Nicolas Garnier, Chief Patient Officer at Servier
As a result, patients often spend years consulting different specialists without getting a real answer. As the Alliance des Maladies Rares (Rare Disease Alliance) reminds us, “More than 1 out of 4 people with rare diseases have to wait sometimes almost four years for the search for their diagnosis to begin.”1
For example, rare diseases — which affect between 250 and 450 million people worldwide2 —pose major challenges in terms of diagnosis and treatment. The clinical features of such conditions are not always well known to primary care physicians, who are trained to identify the most common diseases and their symptoms. Quite often, rare diseases are particularly difficult to detect because they present a multitude of symptoms, which may reflect more common conditions, and therefore lead to misdiagnosis or delayed diagnosis.
Significant consequences for patients and for health care systems
Unfortunately, delayed diagnosis reduces the chances of successfully altering the trajectory of a disease before irreversible effects set in. It also reduces patients’ likelihood of finding appropriate, effective treatment.
Diagnostic odyssey is also a public health issue. It indisputably leads to the inappropriate use of health care resources and puts a strain on public finances. Patients have to endure numerous doctor’s visits and examinations, incurring additional costs. Furthermore, the diagnostic odyssey contributes to saturated health care systems here in Europe, at a time when it is taking longer and longer to see a specialist. In France, for example, it takes an average of 42 days to get an appointment with a cardiologist3. In some regions of Spain, the average waiting time for an initial consultation with a specialist has reached 96 days.4 In the US, estimates put the budgetary impact of rare diseases at $1 trillion, which would be significantly lower if rare disease patients received appropriate care earlier.5
What can be done about the diagnostic odyssey?
A number of solutions exist and can be introduced. These involve, for example, providing physicians with more support and stepping up collaborations between the public health care system and the pharmaceutical industry.
Strive for the highest standards of early diagnosis
To minimize the diagnostic odyssey, it is vital to intervene as early as possible, given that more than 70% of rare diseases are genetic in origin and first appear in childhood.6 It is clear, however, that there is no uniform approach to this type of policy at the European level. In France, for example, 13 diseases are screened for at birth, whereas some countries, such as Italy, go much further, proposing screening for over 40.7
By aligning with the highest standards in the European Union, we could reduce the time spent in medical limbo for many conditions and steer patients toward appropriate care pathways as early as possible. This is the aim of the Screen4Care research group, which uses new technologies to improve the accuracy and speed of diagnosis. This group is supported by the European Commission and the European Federation of Pharmaceutical Industries and Associations, to which I am also affiliated.
Systematically test patients yet to be diagnosed
For patients in need of appropriate diagnosis and treatment, it is essential to standardize genetic detection using currently validated genomic tools, such as genetic panels, and exome and genome sequencing. Ideally, we should already be using actionable gene panels, which correspond to conditions for which a preventive or curative treatment exists and updating these panels with genes corresponding to treatments currently in development. In addition to providing a more accurate diagnosis, this also allows us to rule out certain genetic leads, thereby speeding up patient inclusion in an ongoing trial as well as, in the best-case scenario, facilitating access to an approved treatment. Ultimately, for these patients, we can minimize missed opportunities for inclusion in clinical trials or access to a treatment if one has already been approved!
Develop more accurate diagnostic tools
Every new treatment developed should be paired with an appropriate diagnostic tool to better detect mutations, particularly in rare cancers and rare diseases. These tools are essential to ensure that patients receive the right treatment from the outset.
Provide support for health care professionals
In addition to pharmaceutical companies, it is important to disseminate knowledge and research results to medical professionals and staff. This would entail ongoing training in close collaboration with health care experts.
Improve awareness of the diagnostic odyssey
Awareness-raising campaigns aimed at the general public and medical professionals are also needed to improve prevention, particularly with regard to the recognition of rare and atypical symptoms. In this area, we are actively engaged in awareness campaigns for the general public, in collaboration with patient associations.
Collaborate with patients
Last, but not least, addressing the diagnostic odyssey is something that can only be done in partnership with patients. They are the main people affected and are in the best position to describe their experiences, needs, and preferences, as well as to observe the evolution of their conditions. For this reason, we must include them at every stage of therapeutic development.
Diagnostic odyssey is a subject that’s close to my heart. It is something we may all face at one time or another in our lives. Diagnosis is the beginning of the treatment process. By providing patients and their families with an accurate, rapid diagnosis, we can guarantee greater equity in health care, giving everyone the right to be seen, listened to, heard, and cared for.
And I believe that by getting patients, the private sector, and public authorities to work together, we can improve care for patients in a way that is sustainable and reduce the time patients spend on a quest to diagnosis their condition, with the resulting consequences. By joining forces, we have the power to transform our approach to health care, for the benefit of everyone!
[1] Alliance maladies rares: https://www.alliance-maladies-rares.org/wp-content/uploads/2020/05/Erradiag-l-errance-diagnostic-dans-les-maladies-rares1.pdf
[2] Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020; 28:165–173. https://doi.org/10.1038/s41431-019-0508-0 PMID: 31527858
[3] https://www.liberation.fr/societe/sante/de-3-jours-pour-un-generaliste-a-42-jours-pour-un-cardiologue-doctolib-publie-ses-delais-dobtention-de-rendez-vous-20240423_ZXTGCPK74JAPXELARFYRH534FY/
[4] OCU: https://www.ocu.org/salud/derechos-paciente/informe/tiempo-lista-espera-sanidad
[5] Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. The national economic burden of rare disease in the United States in 2019. Orphanet J Rare Dis. 2022; 17:163. https://doi.org/10.1186/s13023-022-02299-5 PMID: 35414039
[6] Rare diseases international: https://www.rarediseasesinternational.org/living-with-a-rare-disease/ (consulted May 2024)
[7] https://www.regione.toscana.it/documents/10180/24488150/guida%20screening%20in%20francese.pdf/8e78750b-bbf7-4010-9b00-ec7623c2024d *
