Genomics is the study of an individual’s entire set of genes. Genes carry the information that determines your traits which are features or characteristics that are passed on to you—or inherited—from your parents. Each cell in the human body contains about 25,000 to 35,000 genes. This entire set of genes is called the genome. When studying a genome, an investigator analyzes DNA sequences to understand how genes function, interact, and influence individual health and susceptibility to diseases. Genomics can have a profound impact on health care, especially in the field of kidney diseases. Below are some areas that might be greatly improved with the help of genomics:
Kidney disease risk assessment: The analysis of an individual’s genome enables the healthcare provider to assess and determine if there is a higher risk of developing kidney diseases. It allows for personalized risk assessment and early intervention for individuals identified at higher risk.
Precision Medicine, tailored therapy: Genomic information may guide healthcare professionals in designing custom treatment plans for kidney patients. A healthcare professional may be able to identify the most effective therapies or medicines based on the genetic profile of a patient and consequently improve treatment outcomes and/or minimize adverse effects.
Early diagnosis: Insight into genetic markers may help a healthcare provider detect kidney diseases at an early stage, even before the disease symptoms appear. Early detection of kidney disease allows for earlier intervention, slowing the progression of the disease.
Improved transplant compatibility assessment: Genomic information of a patient in need of a kidney transplant may help match donors more accurately. Such accuracy may play a role in increasing the success rate of a transplant by reducing the chances of rejection.
Drug and therapy innovation: Insight into the genomic data can help identify the mechanisms behind the development of some kidney diseases. Once identified, drug developers may be able to develop new drugs targeting those specific mechanisms.
Patients empowered: The knowledge of disease risk and susceptibility to certain kidney disorders allows patients to make informed choices related to their lifestyle, treatments and diet. It gives individuals more control over minimizing the risk of acquiring a kidney disease or slowing its progression.
The use of genomic data in kidney patient care has the potential to revolutionize the way healthcare is delivered by enabling better treatment outcomes through a sophisticated targeted approach towards managing kidney diseases. Healthcare providers and patients are empowered in their journey to enhance patient outcomes and quality of life.
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My Reason® Explained
DNA and Genes
DNA and Genes: The Blueprint of Life
What is DNA? DNA, or deoxyribonucleic acid, is a molecule found within the cells of all living organisms. It is often described as the “molecular code of life” due to its role in storing and transmitting genetic information. DNA resembles a twisted ladder, known as a double helix, composed of four distinct building blocks called nucleotides — specifically adenine (A), cytosine (C), guanine (G), and thymine (T).
What is a Gene? A gene is a functional unit of DNA. It is a specific segment or sequence of DNA that carries the instructions for building and operating an organism. A gene sequence codes a particular protein that plays a specific role in regulating or performing specific functions within a living cell. Genes are the equivalent of an instruction manual for understanding life.
What are Inheritance and Genetic Variation? Genes are responsible for the inheritance of traits from one generation to the next. When organisms reproduce, they pass on their genes to their offspring resulting in a combination of genetic material from both parents. This process contributes to the genetic variation observed within populations, which is essential for evolution and adaptation to changing environments.
Role in Health and Disease The information encoded within genes determines not only our physical characteristics but also our susceptibility to various diseases. Mutations or alterations in genes can lead to genetic disorders and hereditary conditions. Conversely, understanding the genetic basis of diseases has paved the way for breakthroughs in medical research, diagnosis, and treatment.
What is DNA Sequencing? DNA Sequencing is a process used to determine the precise order of nucleotides (adenine, cytosine, guanine, and thymine) within a DNA molecule. It allows scientists to read the genetic code contained in DNA — providing insight into an individual’s genetic makeup — and identify genetic variations responsible for diseases.
It is important to note that DNA and genes are just one piece of the puzzle. Environmental factors, lifestyle choices, and random chance also play significant roles in an individual’s health.
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Podcast: Building the My Reason® Kidney-Focused Genomics Registry, June 2022
