Edition of 28 March 2023

A new study published in Frontiers in Public Health aims to determine the economic burden of rare diseases on households in Turkey. To that end, out-of-pocket (OOP) spending in a range of domains by members of associations belonging to the Turkish Rare Diseases Network were analysed generally and on the basis of disease holder characteristics.

The average household cost of a rare disease was found to be Ł22,743 (€2,877), with a significant relationship between income status and OOP spending. Often, households spent more than 10 percent of their annual income on disease-related expenses; in some cases, respondents even reported expenditures which exceeded income. This demonstrates insufficient coverage of expenses related to rare disease care by Turkey’s General Health Insurance system.

When expenditures were broken down into categories, special nutrition was identified as by far the largest contributor to OOP costs. This points to a need to make allowances in health insurance systems which accommodate for the specific dietary requirements of many rare disease patients.

Beyond nutrition specifically, the findings of this study highlight the need for better inclusion of the rare disease community in Turkey’s health policy. Currently, the country does not have a national plan for rare diseases, nor does it have any dedicated regulation dealing with orphan drugs. Creating policy dedicated to meeting the specific needs of rare disease patients would help alleviate the economic burden on them and their families, leading to corresponding improvements in wellbeing and disease outcomes.

A new study has been published in the International Journal of Environmental Research and Public Health investigating the impact of congenital adrenal hyperplasia (CAH) on parental wellbeing.

CAH is a rare disease with intervention needed early in infancy. Diagnosis is typically achieved via newborn screening, often before the initial onset of symptoms. Caring for a child with a chronic condition such as CAH can have substantial negative benefits on the psychosocial wellbeing of parents. In order to better understand this aspect of the disease and provide guidance for developing parental support programs, researchers utilised a mixed-methods approach to measure the health-related quality of life (HrQoL) of CAH parents, and to determine factors which may impact it.

The study found that parents had a higher HrQoL than those of children with other chronic conditions. This may be related to the typically early diagnosis of CAH, giving parents time to adjust to the reality of the disease as their child ages. The factors which had the most significant impact on HrQoL were the effectiveness of coping patterns, and the intensity of parental needs.

The specific parental needs which were identified through the course of this study highlight gaps in the current services available for CAH families. Specifically, there exists a large knowledge gap, which highlights the importance of providing comprehensive information to parents both at diagnosis, and continuously as the child ages. Early psychosocial support and counselling services would also help parents develop effective coping strategies earlier on in their child’s life, minimising the negative impact of diagnosis on their wellbeing.

A recent article published in JAMIA Open describes the efforts of a team from the United States to resolve barriers to discovery across both rare and common diseases by linking their respective terminologies. This yielded a mapping tool, described in the article.

The Human Phenotype Ontology (HPO) has established itself as the main terminology for describing rare disease phenotypes. The International Classification of Diseases (ICD) billing codes and associated phecodes are more general, and are commonly used by clinicians and in electronic health record-based research. Mapping these two lexicons to each other allows actors in the rare disease field to unlock knowledge contained in ICD-coded records, and vice versa.

To create a large-scale mapping between the two terminologies, the authors used a number of sources and methods including text matching, the National Library of Medicine’s UMLS, PheMap, and others, followed by manual curation and review. The resulting map provides a versatile tool which can help identify patients who stand to benefit from genetic testing, explore molecular mechanisms of disease, and more broadly bridge genome biology and medicine.