Wednesday, February 28, 2024, 10:56 a.m
On the occasion of “Rare Disease Day”, the Accredited Laboratories in Medicine (ALM eV) emphasize the interdisciplinary and patient-centered approach so that those affected receive their diagnosis as early as possible. Successful diagnosis requires close collaboration between treating physicians and specialists in the laboratories, including laboratory physicians, microbiologists, immunologists, transfusion physicians and human geneticists. “Laboratory diagnostics play a central role in the early diagnosis of rare diseases. Through the gradual and cost-efficient application of laboratory medical examinations using the ‘laboratory diagnostic paths’, the specialist laboratories make a significant contribution to initially clarifying the common pathogens without neglecting the rare diseases. However, the availability of diagnostic strategies depends largely on the approval hurdles (IVDR) and the regulations for LDT (Laboratory Developed Tests). In future decision-making at the regulatory level, a patient-centered approach and the consideration of specialist medical expertise would be desirable,” said the first chairman Dr. Michael Müller.
Interdisciplinary dialogue for optimal patient care
“In medicine, the common is common, the rare is rare!” explains the deputy chairman Prof. Dr. Jan Kramer. “That’s why, from my internal and laboratory medical point of view, the focus in differential diagnosis should not be on the rare diseases, but on the common ones. If no diagnosis can be found, then step-by-step diagnostics must of course not reach the end. Doctors are then needed both at the bedside, during patient consultations in the practice and in the medical laboratory, who continue to track down the cause of an illness. Interdisciplinary dialogue is often crucial for successful diagnostics. This ensures both the indication for the correct selection of laboratory analyzes and, based on this, a targeted diagnosis in the interests of optimal patient care. The medical specialty of laboratory medicine is an integral part of care and is an indispensable conditional subject in medicine,” Kramer continued.
Important background information for diagnostic success
If the presence of a rare disease is suspected, more background knowledge about the patient is often required: “The overall picture is important in order to be able to identify the correct and important diagnostic detail. Without precise information about the patient, there is a high probability that important pathogens will be overlooked,” explains Prof. Ingo Sobottka, specialist in microbiology, virology and infection epidemiology and medical director in the LADR central laboratory. “For example, there is a risk of overlooking the relevant infectious agent in a respiratory material in the case of existing pneumonia if only ‘pathogenic germs’ are requested without further information about the patient. In many laboratories, only pathogenic bacteria that are easy to cultivate may then be excluded. However, if the laboratory learns, after consultation with the sending doctor, that the patient has been complaining of a cough for a long time and has recently returned from the Asian region, additional pathogens can be identified through the additional use of special diagnostic tests. Using respiratory PCR and testing for tuberculosis, important viral pathogens such as RSV or influenza viruses as well as bacteria that are difficult to cultivate such as mycoplasma or tuberculosis bacteria can be detected. Such an approach with the involvement of the laboratory according to the “four-eye principle” makes a significant contribution to substantially improving the outcome for the patient.”
About ALM eV
ALM eV is the professional association of accredited medical laboratories in Germany and currently represents over 200 medical laboratories with 900 specialists, around 500 natural scientists and around 25,000 qualified employees. The purpose of the association is to promote and ensure high-quality laboratory medical patient care in Germany. The members of the association ensure comprehensive patient care, even in structurally weak areas. The member laboratories are accredited according to the highest quality standard for medical laboratories (DIN ISO EN 15189) and fully comply with the guidelines of the German Medical Association for the quality assurance of laboratory medical examinations (RiliBÄK).