(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Michaels-Igbokwe, Christine; McInnes, Brenda; MacDonald, Karen V.; Currie, Gillian; Omar, Fadya; Shewchuk, Brittany; Bernier, François P.; Marshall, Deborah

doi:10.1038/s41436-020-00975-0

Cited by 21 publications

(11 citation statements)

References 19 publications

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“…Insight into patient experiences was provided by not only the patient advocate representative on WG3, but also by other members of WG3 who have had extensive experience working with RD patients and have an understanding of the struggles they face. In addition, challenges faced by RD patients is well documented and widely understood by those in the RD community [ 3 – 5 , 9 – 12 ] In Fig. 1 , we have mapped the diagnostic paradigm from the patient’s perspective and the various directions it may take.…”

Section: Resultsmentioning

confidence: 99%

“…While this is a simplified schematic of possible pathways, we acknowledge that, in reality, the diagnostic/therapeutic journey for the RD patient can be much more complex and will include social impact associated with diagnosis and/or treatment. In many cases, the patient’s path to receiving a definitive diagnosis can be long and is often referred to as a diagnostic odyssey that can take many years and require travel to specialists located far from home [ 4 , 5 , 8 – 11 ]. As shown in Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Despite this, diagnosis and treatment of rare diseases often lags behind that of common diseases due to the vast number of different disorders and the small number of patients with these individual disorders. Many times, patients with rare diseases will undergo prolonged diagnostic journeys, termed the diagnostic odyssey, in order to arrive at an accurate diagnosis [ 3 – 5 ]. Even after a diagnosis is finally made, patients with rare diseases can often find that there are few options, if any, for treatment and when treatments exist, they can be very expensive.…”

Section: Introductionmentioning

confidence: 99%

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Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

Zanello

Chan

Pearce

2022

Orphanet J Rare Dis

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Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The International Rare Diseases Research Consortium set up the multi-stakeholder Working Group on developing methodologies to assess the impact of diagnoses and therapies on rare disease patients. Using the patients’ journey on the diagnostic paradigm, the Working Group characterized a set of metrics, tools and needs required for appropriate data collection and establishment of a framework of methodologies to analyze the socio-economic burden of rare diseases on patients, families and health care systems. These recommendations are intended to facilitate the development of methodologies and to better assess the societal impact of rare diseases.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

Zanello

Chan

Pearce

2022

Orphanet J Rare Dis

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“…The diagnostic odyssey for patients with an undiagnosed NDD can be long, often up to 8 years from the initial onset of symptoms to ultimate diagnosis ( Michaels-Igbokwe et al, 2021 ). In this study, across the entire cohort, for patients who were ultimately delivered a new diagnosis, the average time from the initial genetic test (microarray in most cases) to ultimate diagnostic test (by exome sequencing or exome-based panel in most cases) was 678 days (1.85 years) ( Supplementary Data Sheet S1 ).…”

Section: Resultsmentioning

confidence: 99%

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

et al. 2022

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Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for people with neurodevelopmental disorders. There are known barriers to care in accessing clinical genetics evaluation for this patient population. We created a collaborative psychiatric–genetics consultation service and psychiatric–genetics outpatient clinic with the goal to improve care delivery to patients with neurodevelopmental disorders. Two years after the launch of this pilot program, our data demonstrate improved access to genetics evaluation with shorter wait times and fewer patients lost to follow-up. Perhaps most importantly, new genetic diagnoses changed medical care for the majority of patients.

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“…A shorter diagnostic odyssey can provide relief for families and allow for better coping, as well as informed family planning for the future (ACMG Board of Directors, 2015;Reiff et al, 2012;Rosell et al, 2016;Michaels-Igbokwe et al, 2021). As more genetic-based therapies become available, molecular diagnosis will become increasingly important.…”

Section: Discussionmentioning

confidence: 99%

Delayed diagnosis and racial bias in children with genetic conditions

Omorodion

Dowsett

Clark

et al. 2022

American J of Med Genetics Pt A

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As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system-, provider-, and patient-level factors that contribute to the delayed diagnosis of genetic conditions in pediatric patients from minority populations, leading to health disparities between racial groups. We then provide suggestions to address these factors, with the aim of improving minority health and access to genetic care for all children.

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(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Cited by 21 publications

References 19 publications

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Delayed diagnosis and racial bias in children with genetic conditions

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