Reproductive Genetics
It is shown that most people are heterozygous carriers for 2 - 5 recessive conditions. That means they are healthy, but if their partner is a carrier of the same recessive condition there would be a 25% risk to each of their children of being affected.
Preconception carrier screening provides couples or individuals with a risk probability of having a child with certain monogenic conditions.
The American College of Obstetricians and Gynaecologists (ACOG) recommends that information about carrier screening should be provided to every pregnant woman, while screening should be performed ideally before pregnancy. Learn more here.
Clinical Genetics
Seeks to investigate, evaluate, diagnose and manage genetic disorders. This can involve genetic testing to identify potential disease-causing genetic variants and aberrations in affected or at-risk individuals.
Our consultations cover all medical areas and age-groups. This includes genetic conditions related to the fields of Neurology, Dermatology, Ophatmology, Endocrinology, Hematology and Cardiology.
Examples are: Connective Tissue Disorders (e.g. Ehlers-Danlos and Marfan syndrome), Metabolic disorders (inborn errors of metabolism), Neuromuscular conditions, vascular malformations and Mitochondrial diseases.
List of genetic conditions (non-exhaustive)
Oncogenetics
Relevant for patients with a cancer diagnosis and/or family history of cancer. The identification of disease-causing genetic variants can potentially lead to targeted/personalized treatment or surveillance options.
If indicated, the analysis may include the BRCA1 and BRCA2 genes which are associated with hereditary breast and ovarian cancer (HBOC) or can cover other known familial/hereditary cancer syndromes, including Lynch (HNPCC), Li-Fraumeni (LFS), Familial adenomatous polyposis (FAP) and Cowden Syndrom.
Preventive health screening
Proactive screening that provides healthy individuals, without a family history, information about their chance of having a genetic condition that is medically actionable or where preventive steps can be triggered. This includes hereditary form of cancer syndromes and cardiac diseases (Familial cardiomyopathy). Learn more here.
Pediatric Genetics
Seeks to identify childhood genetic disorders and syndromes. This addresses a wide range of conditions from congenital birth defects to developmental delays and mental retardation. A pediatric consultation usually includes a clinical Dysmorphology assessment (Physical examination with attention to abnormal differences in body structure and appearance).
Pharmacogenetics (PGx)
Seeks to understand how certain genetic variants in individuals can affect the metabolism of drugs, susceptibility to side effects, and overall response to treatment.