Breast Cancer Patients Can Remove BRCA1 & BRCA2 Genes From Their Un-born Kids: Using Preimplantation Genetic Diagnosis
New York City (AP ) Barron’s Medical Journal has discovered more and more breast cancer patients are using genomics to ensure that the gene’s associated with breast cancer is Brought To You By Honored to be hosting this retrospective on African American fashion at 2 pm. Saturday at Macy's (near Nordstrom).
not passed down to their kids. Genomics and Pre-implantation genetic diagnosis (PGD) is what’s new for breast cancer patients. Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes.
Pre-implantation genetic diagnosis (PGD or PIGD) refers to genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.
Genetic testing of embryos has been around for more than a decade, but its use has soared in recent years as methods have improved and more disease-causing genes have been discovered. The in vitro fertilization and testing are expensive — typically about $20,000 — but they make it possible for couples to ensure that their children will not inherit a faulty gene and to avoid the difficult choice of whether to abort a pregnancy if testing of a fetus detects a genetic problem.
Some history on genomics, breast cancers progress through accumulation of genomic ( Albertson et al., 2003; Knuutila et al., 2000 ) and epigenomic (Baylin and Herman, 2000; Jones, 2005) aberrations that enable the development of aspects of cancerpathophysiology such as reduced apoptosis, unchecked proliferation, increased motility, and increased angiogenesis (Hanahan and Weinberg, 2000 ). Discovery of the genes that contribute to these pathophysiologies when deregulated by recurrent aberrations is important to understanding mechanisms of cancer formation and progression and to guide improvements in cancer diagnosis and treatment. Electronic Medical Records Gennxeix is also key in a cure for breast cancer. What the fust is all about is scientist recognized something call Luminal subtypes. Luminal subtypes had the lowest overall mutation rate, but by contrast, had the largest number of genes observed to be significantly mutated. This suggests that each of the genes identified as significantly mutated in the Luminal subtypes is more likely to be important in fueling cancer progression.
But the procedure also raises unsettling ethical questions that trouble advocates for the disabled and have left some doctors struggling with what they should tell their patients. When are prospective parents justified in discarding embryos? Is it acceptable, for example,
for diseases like GSS, that develop in adulthood? What if a gene only increases the risk of a disease? And should people be able to use it to pick whether they have a boy or girl? A recent international survey found that 2 percent of more than 27,000 uses of preimplantation diagnosis were made to choose a child’s sex.
Newborn screening is performed in newborns on a public health basis by the states to detect certain genetic diseases for which early diagnosis and treatment are available. Newborn screening is one of the largest public health activities in the United States. It is aimed at the early identification of infants who are affected by certain genetic, metabolic or infectious conditions, reaching approximately 4 million children born each year. According to the Centers for Disease Control and Prevention (CDC), approximately 3,000 babies each year in the United States are found to have severe disorders detected through screening. States test blood spots collected from newborns for 2 to over 30 metabolic and genetic diseases, such as phenylketonuria, hypothyroidism, galactosemia, sickle cell disease, and medium chain acyl CoA dehyrogenase deficiency. The goal of this screening is to identify affected newborns quickly in order to provide treatment that can prevent mental retardation, severe illness or death.
The Luminal subtypes are
characterized by the specific expression signature of multiple so-called transcription-factor genes, including ESR1, GATA3, FOXA1, XBP1 and cMYB. These genes have a complex interaction, cooperating in an orchestrated series of activations. GATA3 and FOXA1 are frequently mutated, but those mutations are mutually exclusive, meaning that mutations were observed in eitherGATA3 or FOXA1 but never in both. However, ERS1 and XBP1 are highly expressed but infrequently mutat. With Genomics we can separate breast cancer genes and break in to categories the different types of breast cancers. 1 Hormone receptor-positive disease, or tumors that have receptors for hormones on the surface of their cells, meaning those tumors can be treated
with hormone-targeted therapy. 1 HER2-positive, referring to the over-expression of the gene HER2, a type of protein that can also be targeted. 1 "Triple-negative" disease, which lacks the hormone receptors - estrogen and progesterone - as well as the HER2 genes that are targeted by some of the newest, most successful treatments. Gennxeix discovered that some patients with HER2-positive breast cancer tended not respond to HER2-targeted therapies. Also, some patients with triple-negative breast cancers responded to therapies while others didn't. "We have been lumping things together that shouldn't be lumped together
The new classifications - four types called HER2 "enriched," luminal A, luminal B and basal-like - categorize breast cancers by their genomic structure using a dizzying array of data points not previously available that have identified new pathways for the cancer to do its damage, making it possible for researchers to identify new places to target disease.
It is possible that somatic cell nuclear transfer (cloning) techniques could eventually be employed for the purposes of reproductive genetic testing. In addition, germline gene transfer is a technique that could be used to test and then alter the genetic makeup of the embryo. To date, however, these techniques have not been used in human studies. Ethical Issues
Any procedure that provides information that could lead to a decision to terminate a pregnancy is not without controversy. Although prenatal diagnosis has been routine for nearly 20 years, some ethicists remain concerned that the ability to eliminate potential offspring with genetic defects contributes to making society overall less tolerant of disability. Others have argued that prenatal diagnosis is sometimes driven by economic concerns because as a society we have chosen not to provide affordable and accessible health care to everyone. Thus, prenatal diagnosis can save money by preventing the birth of defective and costly children. For reproductive genetic procedures that involve greater risk to the fetus, e.g., preimplantation diagnosis, concerns remain about whether the diseases being averted warrant the risks involved in the procedures themselves. These concerns are likely to escalate should cloning or germline gene transfer be undertaken as a way to genetically test and select healthy offspring. Policy and Regulation.
Because insufficient accuracy of genetic tests used for reproductive purposes could have dire consequences (i.e., unexpected birth of a critically ill child or termination of a normal pregnancy), the regulation of such tests has been the focus of several agencies. Four Department of Health and Human Services agencies participate in overseeing genetic tests: the CDC, the Centers for Medicare & Medicaid Services, the Food and Drug Administration (FDA), and the Office for Human Research Protections.
All laboratory tests performed for the purpose of providing information about the health of an individual must be conducted in laboratories certified under the Clinical Laboratory Improvements Act. CDC has a role in addressing the public health impact of advances in genetic research, furthering the collection, analysis, dissemination, and use of peer-reviewed epidemiologic information on
human genes and coordinating the translation of genetic information into public health research, policy and practice. All laboratory tests and their components are subject to FDA oversight under the Federal Food, Drug and Cosmetic Act. Under this law, laboratory tests are considered to be diagnostic devices, and tests that are packaged and sold as kits to multiple laboratories require pre-market approval or clearance by FDA. However, according to the Secretary¿s Advisory Committee on Genetic Testing, most new genetic tests are being developed by laboratories and are being provided as clinical laboratory services. These tests are referred to as in-house tests or ¿home brews.¿ The current administration is examining whether FDA has authority, by law, to regulate such tests.
No comments:
Post a Comment