Wave genome germany is an innovative care concept that integrates genomics into general healthcare services, connecting genetic and clinical data in order to facilitate early diagnosis, prevention and treatment of rare diseases.
In Germany, the severity of COVID-19 pandemic varied across regions due to presence of various SARS-CoV-2 variants. Our phylogenetic analysis demonstrated that second wave was predominantly driven by new introductions of SARS-CoV-2 lineages.
The German Federal Ministry of Health (BMG)
The German Federal Ministry of Health (Bundesministerium fur Gesundheit or BMG) plays a critical role in formulating federal health legislation, acting as the administrative backbone for Germany’s current public health service system and acting as the centre of expertise on public health matters for federal governments. With an established track record for translating government policies into legislation, BMG serves as the administrative backbone of German public healthcare services today.
BMG is responsible for the implementation of the Global Health Protection Plan and coordinates Germany’s core competencies in global health protection, working in partnership with other federal ministries like Labor and Social Affairs, Education and Research, Agriculture and Food, Family Affairs Senior Citizens Women Youth. Furthermore, numerous scientific institutions work towards this goal such as Paul-Ehrlich Institute Robert Koch-Institute Federal Center of Health Education Prevention as well as Bundesinstitut fur Arzneimittel und Medizinprodukte.
As a response to the COVID-19 pandemic, the BMG initiated significant reform of its national public health infrastructure. For example, they replaced two thirds of experts on vaccination (STIKO), established new procedures for selecting future expert commissioners, and created the Federal Institute for Prevention and Education in Medicine (Bundesinstitut fur Pravention und Bildung in der Medizin; BIPAM). All RKI research and surveillance activities related to noncommunicable diseases will now fall under its purview while responsibility will only lie with BzGA for infectious disease research/surveillance activities.
Over the last few decades, Germany has made impressive advances in modernising its health services. Still, much work remains to ensure that Germany remains among the world’s premier healthcare systems; for example, Germany’s contribution to WHO’s ACT-Accelerator helps rapidly deliver and distribute vaccines, tests and treatments during outbreaks.
To meet its contribution, Germany has increased flexible funding by more than one-third and is the top donor to WHO’s Contingency Fund for Emergencies, in addition to increasing support for other areas such as antimicrobial resistance.
GenomDE
GenomDE is a research institute focused on genomics, biotechnology, and molecular medicine located in Heidelberg in Germany. GenomDE offers genome sequencing services as well as other genomic applications to researchers and clinicians as well as helping develop vaccines and medicines. With more than 300 genomic specialists on staff and nextstrain sequencers available for analysis purposes; as well as having strong partnerships in Germany and around the globe; its scientists advance genomic research for fields like cancer, infectious disease research and environmental characterization/cleanup; thus upholding open science principles at GenomDE!
Rare diseases
Rare diseases were once underdiagnosed or ignored entirely, leaving patients to go from doctor to doctor in search of diagnosis – often waiting years. Long wait times caused great physical and emotional discomfort for those living with the conditions as a lack of effective therapies resulted in decreased quality of life. Now however, rare disease centers with experts available for consultation have been established in Germany in order to streamline this process of getting diagnoses faster.
These centers use whole genome sequencing (WGS) and provide genetic counseling, while working with other specialists to help patients receive improved treatment. Furthermore, these centers are creating genomDE, a national database which will connect genetic and clinical data that will aid diagnosis and prevention of rare diseases.
Solve-RD’s primary aim is to accelerate genetic diagnoses for individuals living with rare disease. To do this, they systematically reanalyzed an undiagnosed family dataset recruited by its ERN partners from 6,004 undiagnosed families. This is the first large-scale systematic reanalysis of its type and also features structured phenotype and pedigree annotation of probands affected (see Extended Data Fig 1).
Reanalysis revealed that variants in the spike protein of SARS-CoV-2 were significantly enriched in wave-1 but less prevalent during wave-2; it is thought these mutations increase transmissibility by altering receptor binding domain. Furthermore, the GH clade had more deletion events in their spike proteins than other clades.
Noteworthy is also that many patients suffering from rare diseases are misdiagnosed, leading them to unnecessary suffering. This may be caused by their unfamiliarity with the symptoms and visit various physicians before getting an accurate diagnosis; studies estimate it can take five years or longer before receiving one definitively – this may have serious physical and psychological ramifications, including reduced life expectancy or even an opportunity for cure or survival.
Whole genome sequencing
Whole genome sequencing (WGS) refers to the process of reading and analyzing an entire DNA sequence, providing information that may identify genetic variants that increase disease risk or impact treatment decisions. WGS technology can also reveal mutation rates within cancer tumors to assist researchers in understanding how cancer cells evolve over time; as well as being used to detect traits like inherited disorders or chromosome abnormalities.
WGS is the most comprehensive genomic test available. It identifies variants in both protein-coding and non-coding regions; however, analysis of non-coding regions often presents challenges – this is especially true for complex diseases since many causal mutations may not yet be known at sequencing time; furthermore, such diseases frequently involve multiple genes with overlapped functions that must be assessed together to accurately characterise complex disease states.
WGS has many limitations; nevertheless it has become an effective clinical practice tool to diagnose rare diseases and identify novel genetic causes of disease. Many laboratories – both academic and commercial – now provide WGS testing at manageable costs to patients, leading to the diagnosis of many conditions for the first time as a result of WGS technology. Furthermore, it can detect infectious agents like tuberculosis or SARS-CoV-2 viruses.
WGS technology can play an essential role in food safety, helping identify the source of a foodborne illness outbreak by comparing pathogens found in the environment or food production process with those isolated from sick patients – if these match, an outbreak can be traced back to its source. Furthermore, WGS can detect resistance mutations which reduce treatment effectiveness.
WGS can assist in the early diagnosis and management of rare diseases like inflammatory bowel disease and cystic fibrosis, and also predict response to therapy or suggest the best course of action. When combined with clinical and other biological data sources, WGS provides more efficient healthcare decision-making.
