Everyone has two copies of each set of genes from both parents. If a person inherits a mutation in a Lynch syndrome gene, they still have the normal copy of the gene from the other parent. Cancer occurs when a second mutation affects the normal working copy of the gene, so that the person no longer has a copy of the gene that works properly. Unlike the inherited Lynch syndrome mutation, the second mutation would not be present throughout the person’s body, but would only be present in the cancer tissue. However, not everyone with Lynch syndrome will get cancer. You and your family members are more likely to have Lynch syndrome if your family has a strong history of colorectal cancer. Family members who inherit Lynch syndrome usually share the same mutation. If one of your family members has a known Lynch syndrome gene mutation, other family members who get genetic testing should be checked for that mutation. (source: CDC.gov)
GENETICS VS. GENOMICS
Excerpted from www.genomicmedicineworks.com
Genetics and genomics sound alike and are often used interchangeably, yet important scientific and clinical distinctions exist between these two scientific fields of study. The classical definition of genetics is the study of heredity, how characteristics and traits (phenotypes) of a living organism are transmitted from one generation to the next. This occurs via deoxyribonucleic acid (DNA), a double helix molecule in the cell’s nucleus that comprises genes—the basic unit of heredity. Many of the early principles and rules of heredity were discovered by an Augustinian monk and scientist, Gregor Mendel. His seminal research with pea plants in the mid-1800’s laid the foundation for modern-day genetics.
Genomics is the next evolution of classical genetics, and became possible only in recent decades due significant advances in DNA sequencing and computational biology. In 1976, Belgian scientists succeeded in fully sequencing the genome of bacteriophage MS2, a bacteria-infecting virus. They identified all 3,569 DNA base pairs, and the 4 nucleotides (Adenosine, Cytosine, Guanine and Tyrosine) that make up the DNA code. The first animal genome was completely sequenced in 1998. Five years later, with more than 1,000 researchers from six countries collaborating on the Human Genome Project, all 3.2 billion DNA base pairs in the human genome were identified. Genomics is the study of the entirety of an organism’s genes—the genome. Genomic researchers analyze enormous amounts of DNA-sequence data to find variations that affect health, disease or drug response. In humans, that means searching through about 3.2 billion units of DNA across 23,000 genes.
In a clinical sense, genetics is the study of single genes or parts of genes and their effects on a person’s development, disease risk or response to drugs. This is generally referred to as a “monogenic” approach, since the focus is on a single gene. In contrast, genomics is the study of the function and interactions of all the genes in the genome.
While genetics and genomics are still quite distinct in how they impact health and disease, scientists are starting to view genetics and genomics as part of a continuum. On one end of the spectrum are single gene disorders with high penetrance – meaning if you have the mutation, you get the disease. On other end are genomic SNPs, which are common, low penetrance gene variants from multiple locations interacting with environmental factors, leading to complex diseases. Unlike genetic mutations, SNPs don’t automatically cause disease.
Genomic Medicine: It is now possible to use results from clinically-based genomic testing to evaluate a person’s disease susceptibility, and develop evidence-based, personalized intervention strategies to reduce those risks. These strategies include DNA-directed lifestyle modifications, dietary recommendations, nutritional supplements and/or exercise, all of which influence how these genes function to create health or disease. Biomarker testing can then be used to evaluate whether the intervention is efficacious. With this approach, the guess-work and inefficiencies of trial-and-error strategies are greatly reduced, leading to better health more quickly and cost-effectively.
Our comprehensive Ultimate Wellness genomic test provides gender-specific reports to create personalized programs for many health conditions, including:
To see complete article, visit: https://genomicmedicineworks.com/genetics-genomics/
About the Author
ROBERTA KLINE MD
Co-Founder & CEO of Genomic Medicine Works. Board-certified Ob-Gyn physician, author, educator, genomics expert and entrepreneur, Dr. Kline is passionate about helping others harness the power of personalized, DNA-directed healthcare. Dr. Kline graduated magna cum laude and Phi Beta Kappa from the University of Connecticut. She received her medical degree from the University of Connecticut School of Medicine under an Air Force Health Professions scholarship, and completed her Obstetrics and Gynecology residency at Wright Patterson AFB earning multiple honors. Today, she brings her expertise in healthcare, practice development, genomic science and education, clinical and genomic medicine along with Human Design to Genomic Medicine Works.
LYNCH SYNDROME is a hereditary cancer condition in which a mismatched repair gene, which ordinarily repairs errors in DNA duplication, is defective. As a result, individuals are predisposed at a very high lifetime risk of cancer, including an up to 85% risk for colorectal cancer, 65% risk for uterine cancer, 19% risk for gastric cancer, 13% risk for ovarian cancer and a higher than average risk for other cancer including cancers of the liver, gallbladder, kidney, bladder, prostate, pancreas, skin, brain and breasts. With genetic testing, there is hope...once diagnosed, annual cancer screenings take place and cancers can be treated or removed before becoming life threatening. By knowing our family history and having a great medical team, we live longer than ever before...as long as anyone else!
1) Cancer Heredity / NIH: https://www.cancer.gov/about-cancer/causes-prevention/genetics