Early Detection and Treatment - The Role of Prevention in Rare Diseases

Program 7. Rare Disease Symposium 2023 

Invited by the Eva Luise and Horst Köhler Foundation, around 150 participants joined the 7th Rare Disease Symposium in Berlin on June 9 and 10, 2023, to shed light on the opportunities and limitations of prevention in the field of rare diseases from a medical, ethical, and societal perspective.

Eva Luise Köhler

An important topic, as Eva Luise Köhler emphasized in her opening address, because a prompt, correct diagnosis is a prerequisite for access to specialized experts, targeted therapies and, not least, for being able to accept the situation and life with the disease. She referred to new methods and innovative procedures that, with great dynamism, open up unimagined scope for action - and at the same time raise important and fundamental questions: Questions of the necessity of limiting what is possible, of the controllability of consequences. Questions that concern our society as a whole.

According to Eva Luise Köhler, this discussion must be conducted broadly and include many perspectives as well as different points of view. Given this, she said it was particularly valuable that this Rare Disease Symposium once again brought together the broad spectrum of the "rare disease community" from many different disciplines - from pediatrics to health services research, molecular genetics, systems biology, psychology or medical informatics, and patient organizations. "They contribute the valuable perspective of those we are all concerned about: people with rare diseases," explained Eva Luise Köhler, who is also patron of the Alliance of Chronic Rare Diseases, ACHSE. She expressed her gratitude to the Storz family and team for their hospitality in the rooms of the Berlin Visitor and Training Center, and to the companies Pfizer, Takeda, Sanofi, PTC, Chiesi and Alexion for their financial support of the symposium.

Prof. Dr. Freia De Bock

Preventive care of the future - thinking in social spaces, linking social and health care systems

The subsequent series of lectures was started by Prof. Dr. Freia De Bock. The The professor of health services research in childhood and adolescence with a focus on child protection at Heinrich Heine University in Düsseldorf conducts research at the interface between health services research and public health. According to Prof. De Bock, if the topic of prevention is approached from an overarching perspective, comprehensive improvements can be identified through technical progress and optimization in collaboration, particularly in the area of diagnostics.

However, she sees clear potential for improvement in the area of tertiary prevention, the management of diseases after diagnosis. According to scientific surveys, 75% of diagnosed patients do not have coordinated disease management, a good half complain about a lack of information on living with the rare disease, and a third feel discriminated against in terms of social participation. In order to achieve improvements for those, the social and health care systems must be linked to form a cross-system care system with the integration of social care, education and employment systems. In this context, it is important to view preventive services from two perspectives and to include the socio-spatial perspective in addition to the patient perspective.

As an example of such an approach, she outlined the concept of "social prescribing" originating in the United Kingdom, which supplements medical treatments with prescriptions for social contacts and activities and integrates the aspect of participation into care. The cross-system understanding of prevention also requires new cross-sector financing models, Professor De Bock explained. The ICD (International Statistical Classification of Diseases and Related Health Problems) coding system must be replaced by the multidisciplinary and multinational WHO ICF (International Classification of Functioning, Disability and Health) classification. This is not primarily deficit-oriented, but classifies components of health. Prof. De Bock considers the resource-oriented perspective to have great potential, especially if social innovations are always considered in addition to technical innovations.

Prof. Dr. Annette Grüters-Kieslich

Research on prevention enables life and quality of life for people with rare diseases

Im Anschluss richtete Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation, then turned her attention specifically to the field of rare diseases. In her lecture, she first defined the term and explained three types of prevention: primary prevention, which aims to prevent disease, secondary prevention, which focuses on early detection, and tertiary prevention, which aims to mitigate the consequences of disease.

In the field of rare diseases, Prof. Dr. Grüters-Kieslich sees the idea of prevention as being closely linked to the early detection of diseases. Using the rare diseases cystic fibrosis, POMC, a genetic form of obesity, and pediatric dementia NCL as examples, she explained examples of successful secondary prevention and at the same time named challenges that urgently need to be addressed. The pediatrician warned that the "mills grind infinitely slowly" and take up time that patients do not have.

Prof. Dr. Grüters-Kieslich considers committed research, cooperation with funding institutions and affected individuals, medical registries, structured therapy development in partnership with industry, continuous review of newborn screening parameters based on new therapy developments, and civil society engagement as necessary framework conditions for successful prevention in the field of rare diseases. With the goal of accelerating the processes, the NAMSE National Action Alliance should develop a national action plan and a roadmap of early detection, as well as launch a therapy alliance, the foundations chairwoman suggested. 

Prof. Dr. Georg Hoffmann

The (success) story of newborn screening

was explained in the next lecture by Prof. Dr. Georg Hoffmann, Medical Director of the Department of Pediatrics at Heidelberg University Hospital, who was welcomed as "Mister Newborn Screening" by the moderator Prof. Dr. Reinhard Berner. Professor Hoffmann presented the extended newborn screening as the world's most successful measure for the secondary prevention of health impairments and outlined the history of the screening, which began in 1966 with the Guthrie Test.

Currently, the screening panel in Germany includes 13 metabolic disorders, two endocrinopathies, cystic fibrosis since 2016, severe combined immunodeficiencies (SCID) since 2019, and sickle cell disease and spinal muscular atrophy since 2021. Professor Hoffmann explained that the examinations save several hundred children each year from severe developmental disorders, mostly permanent mental disability, and often even death. He considers the fact that more than 99 percent of parents voluntarily consent to the examinations to be "a great asset". In this way, around 35 million children have been examined in Germany to date and around 15,000 diagnosed at an early stage. Professor Hoffmann referred to studies conducted by Heidelberg University Hospital on long-term development, which provide impressively clear evidence that extended newborn screening enables pre-symptomatic diagnosis, early initiation of treatment and then predominantly normal physical and mental development in almost all children with one of the target diseases covered.

Within the rare diseases, the more than 600 genetically determined inborn errors of metabolism are of particular relevance. For them, the possibilities of rapid and unambiguous diagnosis and, above all, successful treatment have been improved to an extent that could not have been foreseen just a few years ago. As a prerequisite for effective newborn screening, Professor Hoffmann cited a clearly structured screening process with correct implementation of education, sample collection, sample shipment, notification of findings and, if necessary, prompt initiation of further diagnostics and therapy. Since some target diseases can manifest clinically very early, the time period for blood collection was set to the 36th-72nd hour of life.

Professor Hoffmann pointed out the aspect of tracking as a challenge, because it still is a kind of patchwork in Germany, which can jeopardize timely treatment of the affected children. Better program structures are needed here. He is also concerned about the international situation: of 140,000,000 newborns worldwide, only 28% had access to organized newborn screening in 2020. Rapid advances, especially in state-of-the-art genetic and metabolic diagnostics and specific causal treatments, suggest that screening should be expanded rapidly.

Prof. Dr. Anette-Gabriele Ziegler

Fr1da - Detect type 1 diabetes early and treat it well early on

Another successful screening approach explained Prof. Dr. Anette-Gabriele Ziegler, Director of the Institute of Diabetes Research at Helmholtz Zentrum München. She presented the Fr1da study which has been conducted since 2015 by Helmholtz Zentrum München in cooperation with the Professional Association of Pediatricians and Adolescents (Bavarian State Association) and PaedNetz Bayern e. V..

The aim of this first population-based screening test for type 1 diabetes in children worldwide is to diagnose autoimmune type 1 diabetes at a preclinical early stage. This enables the care of affected children and families in an education and screening program and early optimal treatment. More than 600 physicians are now participating in the project, which has since been expanded to include the German states of Lower Saxony, Hamburg and Saxony. Over 176,900 children between the ages of two and ten have already been tested (prevalence 0.3). In addition, large cohort studies are being used to characterize in more detail the development and progression of the islet autoimmunity underlying the disease. Specific autoantibody profiles and characteristics are defined and investigated for the different stages of type 1 diabetes pathogenesis. Because close relatives of people with type 1 diabetes themselves have a significantly increased risk of developing the metabolic disorder, relatives of affected children throughout Germany are also being offered free screening for the early stage of the disease as part of the project.

Dr. Oliver Blankenstein

A proven success story: screening for congenital hypothyroidism

Then Dr. Oliver Blankenstein, Head of newborn screening at Charité Universitätsmedizin Berlin, focused on hypothyroidism. If left untreated, congenital hypothyroidism leads to severe physical and mental developmental disorders (cretinism). However, if the children are given thyroid hormones at an early stage, they develop completely normally in the vast majority of cases, and the development of intelligence is not restricted. However, if therapy is started too late, the disabilities that have occurred up to this point can no longer be reversed.

Dr. Blankenstein explained that (West) Berlin was the first federal state to offer hypothyroidism screening in 1978 and thanked Prof. Dr. Annette Grüters-Kieslich who, together with Prof. Dr. Hans Helge, was instrumental in taking this important step at that time. By 2020, approximately 10.79 million children (719,000/year) had been screened throughout Germany. Hypothyroidism was diagnosed in 3,116, corresponding to an incidence of 1:3463. The goal of preventing the occurrence of mental retardation due to hypothyroidism was clearly achieved with manageable effort - a real success story.

Nevertheless, Dr. Blankenstein warns of being "fed up with one's own success" and sees a need for adaptation with regard to the further development of the screening setting. At present, he says, there is neither central control nor possibilities for follow-up. However, re-screenings are important, for example, for premature babies who can develop hypothyroidism in the course of their lives. Without adaptations to evolving medicine, he also sees the risk of a transition from "underdiagnosed" to "overtreated." Due to the great medical progress of recent years, abnormalities are also diagnosed at an early stage that would perhaps not trigger any complaints. This can be psychologically stressful for patients and result in unnecessary treatment. Even a very successful measure needs evaluation and adaptation, Dr. Blankenstein emphasized in conclusion.

Dr. Stephan Lobitz

Success story in the making: Screening for Sickle Cell Disease

A new addition to the screening catalog was the subject of the following presentation: Dr. Stephan Lobitz, Chief Physician of the Clinic for Pediatric Hematology and Oncology at the Gemeinschaftsklinikum Mittelrhein in Koblenz. Sickle cell disease is a hereditary disease of the red blood cells (erythrocytes) that affects the entire body, causes severe pain and can trigger life-threatening infections due to damage to the spleen. Worldwide, around 250,000 children die each year from the hereditary disease, which occurs predominantly in the Mediterranean region, Central Africa and the Arab countries.

In Germany, the incidence is steadily increasing due to immigration. Early detection and treatment can reduce the risk of mortality by up to 90 percent, but affected children were often identified too late in the past, Lobitz explained. Diagnosis is relatively easy with a blood test, but it involved equipment that many German laboratories do not use. By demonstrating that the disease is also diagnosed with a standard analytical method used in Germany, tandem mass spectrometry, Dr. Lobitz was instrumental in getting testing for sickle cell disease included in regular newborn screening in Germany on Oct. 1, 2021. In 2015, he received the Eva Luise Köhler Recognition Award which he himself rates as a "booster" for the project and the process.

After one and a half years of screening, the hematologist draws a positive conclusion: With around 140 to 150 new cases detected per year, we are at the upper end of what was expected, and a large proportion of patients are obviously arriving at the clinics, says Dr. Lobitz. Thanks to the combination of early detection and penicillin administration, the probability of survival for children is now almost one hundred percent.  

Stephen Kingsmore, MD, DSc

The Future of Newbornscreening is starting now

After the lunch break, which was used for personal exchange, Prof. Dr. Grüters-Kieslich welcomed Stephen Kingsmore, President/CEO of Rady Children‘s Institute for Genomic Medicine in San Diego/ USA a "pioneer of genetic screening". In his presentation, Stephen Kingsmore introduced the "BeginNGS" project, in which whole genome sequencing (WGS) is used as a screening tool for newborns to detect genetic diseases before the children become ill.

Professor Kingsmore emphasized that the treatment of patients with rare diseases is a global problem that needs to be addressed by integrated healthcare systems. He believes that the current diagnostic odyssey, in which patients see an average of seven doctors and only receive a diagnosis after five years, is simply no longer acceptable in today's world. Enormous technological advances in whole genome sequencing have made it possible to obtain test results within a few days and at lower cost - for Stephen Kingsmore, the beginning of a new era that will bring solutions for many diseases.

The BeginNGS project involves taking blood samples from children at the time of birth and analyzing them in the laboratory using whole-genome sequencing. The genome analysis and interpretation is to be performed prospectively for about 700 early-onset, treatable diseases. Phase 1 studies found a false-positive rate of only 3/1,000 and a sensitivity of 91% for 412 diseases, Professor Kingsmore said. If a positive screening result is found, the treating physician will have access to resources for medical treatment and available interventions. They will then discuss next steps with the family. Licensed and certified genetic counselors are available for consultations. The BeginNGS consortium currently involves partners in the U.S. and abroad: Clinics, pharmaceutical and technology companies - though not from Germany. A situation Stephen Kingsmore would like to change: "We need to fix that, don't we?"

For Stephen Kingsmore, the screening process is much more than just the test: BeginNGS sees itself as a digital health system for families with genetic disorders and their healthcare providers. It begins at birth and extends throughout the lifespan. Parental and community acceptance, he said, is critical to its success. Kingsmore believes that with new gene therapies and drugs for rare diseases, now is the time to end the diagnostic and therapeutic odyssey for all children with treatable genetic diseases. Everyone is invited to work toward this goal, he said, "This is the future, it is exciting!"

Prof. Ohad Birk, MD, PhD

Genetic Screening in Israel

Then Ohad Birk, Professor of Human Genetics and Head of the Israeli National Research Center for Rare Diseases at Ben Gurion Universityovided an overview of screening activities in Israel.. There, genetic screening and testing are widespread, and researchers are already using patient data on symptoms, diagnoses and disease progression on a large scale to specify therapies and optimize the healthcare system.

Professor Birk described the particular complex ethnic and religious composition of Israeli society, in whose various ethnic populations numerous founder mutations have been identified, often down to the level of specific villages or tribes. He explained that endogamy and consanguinity result in high rates of mostly autosomal recessive diseases in some communities. This offers the opportunity to explore and elucidate genetic defects in many cases. With his team, Professor Birk deciphered the molecular basis and mechanism of more than 50 inherited diseases, including some of the most common severe conditions in Arabs and Jews worldwide. The results enabled widespread carrier testing among the Bedouin of Israel, which reduced the infant mortality rate in that community by 30%. The discovery of the genes for the two most common severe inherited diseases within the Sephardic Jewish community, progressive cerebral atrophy (PCCA) and PCCA-2, prompted the Israeli government to offer testing for these diseases free of charge.

For Professor Birk, the challenge is not the genetic tests as such, but the subsequent counseling required. The key question, he said, is how the information obtained can be communicated and used. In view of the enormous progress in the field of genomic medicine, these questions are becoming increasingly urgent, says Birk.

Prof. Dr. Christian Dierks, Prof. Dr. Markus Zimmermann, Prof. Dr. Ute Spiekerkötter, Prof. Dr. Hans-Hilger Ropers

Panel Discussion: Is Society Ready for Genetics-Based Newborn Screening?

The pressing question of the further development of newborn screening was the subject of the subsequent panel discussion moderated by Professor Grüters-Kieslich with Prof. Dr. Ute Spiekerkötter, Medical Director of the Clinic for General Pediatrics and Adolescent Medicine at the University Medical Center Freiburg, Prof. Dr. Christian Dierks, specialist in social and medical law and general practitioner, Prof. Dr. Hans-Hilger Ropers, Director emeritus of the Max Planck Institute for Molecular Genetics, and Prof. Dr. Markus Zimmermann, Titular Professor at the Faculty of Theology of the University of Fribourg..

There was consensus in the panel that it is time to lay the foundations for genetically based newborn screening in Germany, which Professor Ropers believes will open up "a new dimension". In this context, Professor Spiekerkötter recalled Germany's special historical responsibility, but also emphasized that many treatable diseases can only be identified genetically. From an ethical point of view, Prof. Zimmermann stated: "If we can do something therapeutically, we should do it," For him, the criteria for including diseases in the screening panel must be treatability before the onset of symptoms. Examples could be congenital cardiac arrhythmia (LongQT) with high sudden mortality and neurological diseases associated with severe disability, such as folate transporter defects, neuronal ceroid lipofucinosis CLN2, or soon Duchenne muscular dystrophy.

The agreed position was that good education and informed consent of patients are essential, which requires open communication and individual counseling. The patient focus is also central for Professor Dierks: He cited a decision of the European Court of Justice according to which existing better therapies must be made available to patients. He sees a major challenge in dealing with the veritable explosion in the amount of information brought about by the further development of testing procedures. In this context, he says, it is important to build capacities in education and training as well as networks that extend beyond the healthcare system. Genetic education must also be provided throughout society.

Given the complexity of the topic and the many questions that need to be clarified, the discussion group was in favor of defining initial steps and developing guidelines from within a small group. The key is not wanting to do too much at once and thus slowing oneself down. Professor Dierks emphasized that Germany often blocks its own progress. The roundtable and the first day of the symposium came to an end with all participants declaring that they would like to participate in such a commission.

Prof. Dr. Ana Pombo

From Exome to Genome and beyond in rare diseases

The second day of the 7th Rare Disease Symposium was opened by Prof. Dr. Ana Pombo. The group leader at the Max Delbrück Center for Molecular Medicine (MDC) presented the research of her group, which studies the interplay between gene regulation and genome architecture to understand the rules and principles of genome function.

Professor Pombo described three-dimensional folding of the genome as a new aspect of gene regulation whose role is becoming increasingly relevant. Folding enables new mechanisms to control physical contacts between distant regulatory DNA sequences and gene promoters and to activate gene expression. To find out more about these mechanisms, Ana Pombo and her team have developed a method called "genome architecture mapping," or GAM. This involves first freezing tissue or cells and then cutting them into ultra-thin slices so that the tiny amount of DNA in the slices of individual cell nuclei can be sequenced. The method provides 3D maps of the entire genome and, with the help of statistical calculations, reveals which sections of the genetic material within the cell nucleus prefer spatial proximity - in other words, where the putative switches of a very specific gene are positioned. The biochemist sees great potential in this method, especially for rare diseases. She hopes to increasingly understand how the genetic variations that are crucial for the diseases are linked to changes in the 3D genome structure.

Sebastian C. Semler

genomDE - Upswing for Genomic Medicine in Germany?

Sebastian C. Semler, Managing Director of the Technology and Methods Platform for Networked Medical Research e.V. (TMF e.V.) and head of the genomDE coordination officepresented the National Strategy for Genome Medicine. Funded by the German Federal Ministry of Health in the form of the genom.de project and a model project on genome sequencing, this strategy is driving forward the establishment of a nationwide platform for medical genome sequencing.

Sebastian Semler explained how improved access for patients to a suitable clinical application of genome sequencing is to be achieved and how established structures in research and care are to be brought together in the best possible way for this purpose. An exchange platform is particularly important in the field of rare diseases, as many genetic correlations can only be identified by comparing individual data with the largest possible "data horizon" from other treatment cases. However, no central data tankers should be set up, Semler said. Instead, what is needed is patient-oriented and linkable data collection. He urged that pigeonholing be overcome and isolated solutions be combined: "We need new approaches. Research and care cannot be separated."

Prof. Dr. Nikolaus Rajewsky

Prevention and the Role of Medical Systems Biology in Rare Disease

Cell-based medicine has the potential to detect and counteract diseases long before symptoms become apparent. This conviction guides the research of  Prof. Dr. Nikolaus Rajewsky, Founder and Director of the "Berlin Institute for Medical Systems Biology" (BIMSB). One focus of his research is microRNAs, which play a key role in the control of cellular processes and in the development of diseases.

Using the example of herpes-induced encephalitis and the study of a lung tumor, Professor Rajewsky showed how he and his team are increasingly succeeding in understanding what happens in human cells during a disease. To this end, they have developed computer programs and technologies that have made it possible for the first time to identify the target genes of microRNAs and to describe the influence of microRNA regulation on protein synthesis. In doing so, the silencing of microRNAs activities forms concrete starting points for the development of new drugs. In order to advance the implementation of cell-based medicine, Professor Rajewsky has initiated the establishment of the Berlin Cell Hospital, which is to be established as a kind of ecosystem for research, translation and innovation to improve patient outcomes and cover all aspects of cell-based medicine. This is a great opportunity, especially for the field of rare diseases.

Prof. Dr. Felix Berger

20 Years National Registry for Congenital Heart Defects - Status and Prospects

Prof. Dr. Felix Berger, Director of the Clinic for Congenital Heart Defects at the Charité, presented the National Registry for Congenital Heart Defects. This core project of the Competence Network for Congenital Heart Defects has been continuously collecting data on the course of the disease, life expectancy, quality of life, care situation and biosamples from patients and their family members since 2003.

The research infrastructure, which is unique in its kind worldwide, enables the linking of phenotypic data with disease progression and biospecimens. Professor Berger explained that approximately 6,000 children are born with a heart defect in Germany each year, with the severity of the manifestation and incidence of individual diseases varying widely. He emphasized that thanks to major advances in pediatric cardiology, cardiac surgery and anesthesia, more than 90 percent of patients now reach adulthood. In most cases, however, he said, patients are chronically ill throughout their lives, necessitating close medical follow-up based on a broad and valid database. The National Registry for Congenital Heart Defects provides such a data base. With its claim "Recognize - Record - Understand - Solve", the registry enables "research for and with patients". In the meantime, 60,000 patients and their relatives are involved in the registry, and research is being conducted worldwide with their data and sample donations. A valuable basis for modern cardiac research and at the same time a role model for other areas of medicine.

Dr. Nora Matar

Transition as the key to empowerment in living with a rare disease

Also Dr. Nora Matar, specialist in pediatrics and adolescent medicine at the Center for Rare Diseases Ruhr,focused on patients in her presentation. Using a fictitious patient story, she elaborated on the great importance of a well-prepared transfer of young people with chronic rare diseases from family-oriented pediatrics to patient-centered continuing care departments.

A successful transition is essential to ensure continuity of care, says Dr. Matar. However, this complex process still does not function satisfactorily: up to 40% of adolescent patients lose their connection to specialized care during this phase of life. To address the complex challenges of transition, the Innovation Fund project TRANSLATE-NAMSE established structured care pathways that use a questionnaire to assess patients' situations and knowledge. In the evaluation, it became clear that the structured approach resulted in a sharp decrease in the need for consultation. "Transition is costly, but it is important and worthwhile," concluded Dr. Nora Matar.

Geske Wehr

Care gaps from the patients' perspectiven.

This conviction was shared by Geske Wehr, Chairwoman of the Alliance of Chronic Rare Diseases ACHSE e.V.She, too, considers the transition from pediatrics to adult medicine to be a special challenge and emphasized: "We see the biggest gap in care from 18 upwards." Therapies and aids are more difficult and, above all, more expensive to obtain in adulthood, which places a heavy burden on young adults in particular. In addition, many rare diseases that pediatricians are familiar with are still "hummingbirds" for adult physicians. It is even more difficult when other, more common diseases are added. Another topic that is close to Geske Wehr's heart: "Society and the healthcare system are not prepared for the care of older patients with rare diseases!

Another problem is that the provision of socio-legal advice in Germany is very heterogeneous and access to adequate care often depends on chance. With regard to children and adolescents, Geske Wehr advocated the establishment of school health care specialists. These specialized nurses could not only relieve the educational staff, but also especially the parents of children and adolescents with chronic diseases. In summary, the ACHSE Chair stated, "Fortunately, research is on a good path, but much remains to be done in the care of people with rare diseases!"

Prof. Dr. Laura Inhestern

Crisis prevention: What can and do we have to learn for rare diseases from the pandemic?

The care of people with rare diseases during the Corona pandemic was then highlighted by Prof. Dr. Laura Inhestern from the Center for Psychosocial Medicine at the University Medical Center Hamburg Eppendorf. Funded by the Eva Luise and Horst Köhler Foundation, she conducted the research project"Retrospective analysis of the care situation and everyday life of people with rare diseases during a pandemic"in cooperation with ACHSE e.V. between April 2022 and May 2023.

Professor Inhestern reported that increased failures of medical and complementary therapeutic care were reported, particularly during the first phase of the pandemic. The isolation caused by the official orders to reduce contact and intensified by the fear of infection put a great strain on those affected and led many to reduce their social contacts beyond the orders. Symptoms of depression and anxiety disorders increased. In particular, parents of children concerned experienced multiple stresses due to the loss of care facilities, supportive care, and the informal support network (e.g., grandparents) while simultaneously being required to work from home.

Professor Inhestern and her team derived recommendations for action from the results of the online survey and in-depth interviews with patients, relatives, and representatives of self-help groups. The key is to ensure continuity in diagnostics and medical care, for example by establishing and implementing structured care pathways. Alternative care models, such as telemedicine or home visits by caregivers, should be used to provide all patients with the necessary access to care. Adequate supplies of necessary medications, specialized medical nutrition, equipment and protective clothing should be ensured, as should visiting arrangements that allow regular personal contact between patients and close relatives during inpatient stays and placement in medical and care facilities. As they act as low-threshold contacts for patients and their relatives in a variety of ways, the researchers also recommend that the work of self-help organizations be supported in the long term.

Bernd Rosenbichler, Prof. Dr. Sylvia Thun, Prof. Dr. Martin Mücke, Prof. Dr. Helge Hebestreit

ROUNDTABLE Digitization, Artificial Intelligence and Prevention - a Perfect Combination?

The 7th Rare Disease Symposium concluded with a roundtable moderated by Prof. Dr. Helge Hebestreit, Head of the Center for Rare Diseases at the University Hospital Würzburg. To discuss the opportunities and challenges of digitization he was joined by Prof. Dr.  Sylvia Thun, Director of Digital Medicine and Interoperability at the Berlin Institute of Health, Bernd Rosenbichler, founder of the non-profit Alström Syndrom e.V., and Prof. Dr. Martin Mücke, Director of the Institute for Digital General Medicine at the University Hospital RWTH Aachen.

There was agreement both on the panel and in the audience that digitization in the field of rare diseases brings great potential for improvement. For Bernd Rosenbichler, it primarily means empowerment in his role as a patient representative, enabling him to both contribute and receive help throughout the entire patient journey. Professor Mücke identified great potential in particularly in the shortening of diagnostic paths and the preservation and continuation of existing structures: In this context, he pointed out that 55 percent of the physicians providing care will retire by 2030, and their specialist expertise urgently needs to be secured. According to his assessment, the lack of confidence of many primary care providers in the establishment of digital structures is an aggravating factor; in particular, the unsuccessful installation of the electronic patient file has generated a great deal of skepticism.

For Professor Thun, the central issue is the lack of data. In the outpatient sector, where patients with rare diseases are predominantly treated, mandatory coding is just as necessary as homogenization of systems, devices and processes, she said. Bernd Rosenbichler added that this issue goes beyond the technical area. A change in culture and mindset is important, he said: "We should leave the subjunctive behind and switch to doing!" This requires setting concrete goals, such as diagnosing every rare genetic disease within one year by 2030. Above all, Sylvia Thun would like to see the creation of a competent body that acts professionally, defines content and coordinates processes. Martin Mücke concluded by calling for the development of well thought-out structures that involve all people. Far too often, money is spent on projects without involving the people who have to use and apply the whole thing in daily practice.

At the end of two symposium days full of information, discussions and impulses around the importance of early diagnosis of rare diseases, Eva Luise Köhler and Prof. Dr. Annette Grüters Kieslich expressed their sincere thanks to the 22 speakers and all guests who were interested and engaged. See you at the 8th Rare Disease Symposium on May 3 and 4, 2024!

Photographer: Andrea Katheder
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