Human Genetics: How Your DNA Shapes Your Health
Introduction Human Genetics is a fundamental branch of biological science concerned with the study of genes, heredity, and genetic variation in human populations. It explores the structure and function of DNA, patterns of inheritance, gene expression, and the mechanisms through which genetic information is transmitted from one generation to the next. As a core discipline […]
Maternal Age Over 35 | Understanding Pregnancy Risks and Healthy Outcomes
Introduction Definition of Maternal Age Over 35 Maternal Age Over 35 refers to pregnancies in women who are 35 years of age or older at the time of conception or delivery. This age threshold is widely recognised in clinical practice as it is associated with an increased risk of chromosomal abnormalities, obstetric complications, and certain […]
Advancing Population Health
Introduction Genomic screening has emerged as a transformative tool in modern medicine, enabling the early identification of genetic variants associated with disease risk across populations. By systematically analysing genomic information, genomic screening allows for the detection of individuals and groups at increased susceptibility to both rare and common conditions, often before clinical symptoms arise. Advances […]
Understanding Hereditary Cancer and Your Risk
Is Hereditary Cancer? Cancer can be hereditary, but inherited gene changes account for only a small proportion of all cancers. Most cancers develop over time as a result of ageing, chance DNA changes, environmental exposures and lifestyle factors. In contrast, hereditary cancer occurs when a person inherits a gene variant from one of their parents […]
Understanding Your Drug Phenotype: Pharmacogenomics and Medication Compatibility
What is a Drug Phenotype? At its core, a Drug Phenotype refers to the observable clinical reaction an individual has to a specific pharmaceutical agent. It is the functional outcome of how a person’s body processes, interacts with, and responds to medication, manifested as either a therapeutic effect, a lack of efficacy, or an adverse […]
Beyond WES : Advanced Genomic Tools for Rare Disease Diagnosis
Introduction For many families navigating the complex journey of a suspected genetic condition, receiving a negative result from a standard test can feel like hitting a brick wall. Whole Exome Sequencing (WES) has revolutionised medical genetics, acting as a crucial first step in identifying the molecular causes of disease. However, despite its efficiency, it is […]
The Power of Re-analysing Whole Genome Sequencing (WGS) Results
Introduction: The Unseen Potential in Raw Genomic Data When patients undergo Whole Genome Sequencing (WGS), they receive a comprehensive report based on the clinical knowledge available at that specific moment. However, the world of genetics moves at an incredible pace. What was considered a “variant of unknown significance” (VUS) last year might be definitively classified […]
Whole Exome Sequencing (WES): Finding Answers for Rare Diseases
Introduction: Beyond Standard DNA Tests For many families across the UK navigating unexplained symptoms or complex health conditions, the initial medical journey often involves a series of basic genetic tests. However, standard targeted panels frequently return “negative” or “inconclusive” results because they only examine a small fraction of our genetic makeup. When these routine investigations […]
Blood Thinners: Optimising Warfarin and Clopidogrel Dosag
The Science Behind Blood Thinners: Why One Dose Doesn’t Fit All In the realm of modern cardiology, the traditional “one-size-fits-all” approach is becoming rather obsolete, quite frankly. When it comes to Blood Thinners, what works wonders for one chap might be remarkably ineffective, or even hazardous, for another. This isn’t down to mere luck; it’s […]
Embryo Mosaicism : Understanding Your PGT-A Results in IVF
Introduction: The “Grey Area” of PGT-A Results For many couples embarking on an IVF journey in London, the goal of genetic testing is to find a definitive answer. Historically, Preimplantation Genetic Testing for Aneuploidies (PGT-A) was viewed as a binary choice: an embryo was either “euploid” (chromosomally normal) or “aneuploid” (abnormal). However, as genomic technology […]
