Genetics play an important role in many human diseases: About 80% of all rare diseases (diseases affecting <1/2.000 individuals) have a primarily genetic basis. Genetic factors can cause disease, or they can influence the course of common diseases (such as diabetes, cancer, cardiovascular or psychiatric disorders).
Genetic disorders may affect any organ. Human genetics therefore overlaps with all medical specialities. The genetic diagnosis may guide patient management, from prophylaxis to therapy planning. In the recent years, high-throughput sequencing technologies, collectively termed next-generation sequencing (NGS), have revolutionized genetic diagnostics. Lengthy and expensive „diagnostic odyssees“ can now be avoided through an application of NGS-based diagnostics. Therefore, NGS plays a pivotal role in our centre. For further information and cooperation requests, please contact us.
We offer genetic counselling and diagnostic analyses for the entire spectrum of genetic disorders. If a genetic cause is suspected, healthcare providers usually cover the costs of genetic counselling (which may be initiated by any physician).
Genetic counselling is advisable if a genetic disorder is suspected or proven in a patient and/or the patient’s family.
Main reasons for human genetic counselling are:
- family planning in case of parental consanguinity
- family planning in case of advanced maternal (less frequently: paternal) age
- prenatal diagnostics
- conspicuous prenatal findings (e.g. in fetal ultrasound)
- assessment of fetal exposition to medication, X-ray photographs etc.
- recurrent pregnancy losses or stillbirths
- congenital disorders, developmental delay
- Clinical and diagnostic assessment if a genetic syndrome is suspected
- suspected or proven inherited disorder
- familial occurence of more common diseases which may also have a genetic basis (e.g. cancer, neuromuscular disorders, disorders of lipid metabolism and coagulation)
- suspicion of carriership for a genetic disorder
- predictive diagnostic testing
Predictive genetic testing denotes the analysis of a healthy person for genetic variants/mutations which will lead to disease later in life (or increase the risk). The detection of a disease-causing genetic variant can prompt measures of prophylaxis, prevention and treatment and can be helpful in life and family planning.
In general, the determination of the familial disease-causing mutation in an affected family member (index patient) is a prerequisite for offering predictive testing. Targeted testing for this mutation in family members who have an a priori risk to be carriers can then yield a definite result (either carrier, corresponding to an increased risk for disease, or non-carrier with no risk elevation). This enables the early detection of carriers which may guide the individual medical management, e.g. clinical early detection examinations in case of carriership for a mutation predisposing to tumour development. Predictive testing requires genetic counselling before (to illustrate the potential consequences) and after testing (for a detailed explanation of the result and its implications).
- the clinical and genetic aspects of their disease
- the possible mode of inheritance and the corresponding recurrence risk
- diagnostic options (confirmation of the clinical diagnosis in patients, prenatal testing, determination of carriership)
- therapeutic options, prophylactic measures
- the prognosis
Depending on the individual case, genetic counselling may require 30 minutes, but it may also last 1-2 hours. It includes assessment of previous medical reports, the documentation of the medical and family history (including a 3-generation pedigree), detailed discussion of the diagnosis and (depending on the constellation) physical examination. If diagnostic genetic testing is initiated, several consultations (e.g. for discussing the implications of the test and its results) may be necessary.
Genetic disorders may affect any organ. Human genetics therefore overlaps with all medical specialities. The genetic diagnosis may guide patient management, from prophylaxis to therapy planning. In the recent years, high-throughput sequencing technologies, collectively termed next-generation sequencing (NGS), have revolutionized genetic diagnostics. Lengthy and expensive „diagnostic odyssees“ can now be avoided through an application of NGS-based diagnostics. Therefore, NGS plays a pivotal role in our centre.
Our team at the Senckenberg Centre for Human Genetics conducts genetic counselling and diagnostic analyses for virtually every genetic disorder. However, there are areas of special expertise concerning particular disease groups - namely deafness, eye diseases, neurogenetic disorders (including developmental delay/mental retardation), congenital malformation syndromes and genetic tumour predisposition. There has been long-standing diagnostic and scientific activity of our physicians and scientists, and the latter is reflected by the identification of several new genes associated with isolated and syndromic hearing impairment, retinal degeneration and various syndromes.
Familial clustering of cancers may indicate that hereditary factors play an important role for cancer development in such families. Genetic counselling and molecular genetic diagnostics may enable targeted preventive screening measures and might be important for individual treatment in some tumour entities.