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Download The Significance of Genetics Across Disciplines: Genetic
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Rachel Bertsch Overview What is a gene? How do we learn about genes? What is genetic testing and why is it important? What are genetic disorders? What kinds of genetic tests are available? What are some of the obstacles and concerns with genetic testing? What is genetic counseling? How does someone become a genetic counselor? Recap, Resources What is a gene? What does it do? A gene is the basic unit of heredity Genes are short segments of deoxyribonucleic acid (DNA) found in the chromosomes of all cells Each gene contains a code that directs the construction of essential molecules called proteins Nucleus Gene Chromosome DNA Cell Animal Models for understanding the genetic code Animals have been invaluable to the study of genetics and understanding disease Mice, rats, primates, zebrafish and a whole host of other organisms make incredible discoveries possible Many diseases we understand today were first characterized and understood in animal models Zebrafish are especially useful due to their see-through embryos allowing us to watch as genes and disease are expressed in vivo The mouse is the most widely used model of human disease Human Genome Project International, cooperative effort to sequence the entire human genetic code of roughly 3 billion base pairs. Started in 1990 Completed in 2003, ahead of schedule and under budget All results made available online as they were sequenced Now over 1800 genes coding for disease have been discovered And over 2000 (and counting) genetic tests have been developed What is genetic testing? Taking a sample of DNA and sequencing the genes to determine the genetic code Mutations are changes in the genetic code that can be harmful or beneficial Some mutations can cause diseases, in this case, genetic conditions Why is genetic testing important? Everyone has a genetic code and many disorders can be traced in part to a genetic basis Genetic testing can be used to help diagnose existing disorders and also to predict future disorders. The number of genetic tests available is rapidly approaching 1000, and the number of genetics professionals is also growing (genome.gov) Genetics can have effects on not just physical health but also mental health and general well-being Genetic testing is important for all health care professionals to understand Primary care physicians Nurses Psychologists/psychiatrists Specialists Researchers Genetic doctors, counselors Genetic Disorders Tuberous Sclerosis Phenylketonuria 22Q11.2 Neurofibromatosis Down Syndrome Genetic disorders can be complex and multifaceted Multisystem Range of severity Presence or absence of symptoms Overlap with many other disorders/problems Preparation for future struggles Necessity of increased testing, screening www.smh.com.au 22Q11.2 Heart problems Cleft palate Distinct facial features Immune deficiency Kidney problems Seizures Feeding issues Hearing loss Development delay &/or ADHD Risk of mental illness Types of Genetic Testing Tests can be designed to examine single nucleotide mutations or multiple chromosomal errors Tests for different circumstances: • • • • • determine carrier status diagnose specific disorder test prenatally for conditions screen newborns (e.g. PKU) determine future risks (predictive/presymptomatic) • test fertilized eggs prior to implantation • forensic investigations www.mun.ca Obstacles There are many conditions that have yet to be described by genetic testing Unclear effects of genetics versus environmental cues Sensitivity rates of some tests Translating results into treatments Ethical concerns Informed consent Incidental findings Children Confidentiality What is genetic counseling? According to the National Society of Genetic Counselors, “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” Genetic counseling consists of: Assessing medical and family histories to determine risk factors and chance of disease occurrence Educating about genetic testing, patterns of inheritance, disease management, prevention, research, and resources Counseling to facilitate informed decisions and help patients cope with the condition Genetic counseling profession NSGC Networking Academic advancement ABGC Grants accreditation to genetic counselors and genetic counseling graduate programs Facilitate Certified Genetic Counselor examinations Job opportunities for genetic counselors Hospital Prenatal Research Pediatrics Laboratories Cancer Public Health Specialty clinics Pharmaceuticals Marketing Graduate School Preparation 2 year Masters of Genetic Counseling Any major accepted, biology/genetics or psychology with science prerequisites preferred 32 graduate programs in the US, 3 in Ohio Exposure to genetic counseling, advocacy experience desired GRE, 3 letters of recommendation, transcripts, essays/personal statement, applications & fees Interviews in February/March, acceptance in late April, early May Recap Genes have complex and multifaceted impacts on our health and well-being Genetic testing is an important tool for health professionals and their patients for disease management and planning purposes Genetic counseling is a growing field that will provide exciting job opportunities for years to come. Medical-dictionary.thefreedictionary.com Glossary of Terms En.wikipedia.org DNA: deoxyribonucleic acid, double stranded molecule containing all information for cell growth and function Chromosome: structure containing genetic material (DNA), the DNA strand is wrapped around proteins. Chromosomes occur in pairs. Gene: the basic unit of heredity, directs the structure of necessary protein(s) and determines phenotype with the environment Phenotype: physical expression of a gene Mutation: A change in the genetic code of a gene/chromosome, can be positive or negative Nucleotide: basic building block of an amino acid, made up of a nitrogenous base (adenine, guanine, thymine, uracil, cytosine), sugar (deoxyribose in DNA) and a phosphate group Amin0 Acid: structural pieces of a protein coded for by codons (set of 3 nucleotides) and linked together by peptide bonds Karyotype: depiction of all the chromosomes in a cell, sorted by size, pair, and number Web Site Resources American Board of Genetic Counseling (www.abgc.net/) National Society of Genetic Counselors (www.nsgc.org/) Genetics Home Reference (http://ghr.nlm.nih.gov/) Dempster Family Foundation (dempsterfamilyfoundation.org/) Graduate school program websites Hospital websites NCBI’s Genetic Testing Registry (http://www.ncbi.nlm.nih.gov/gtr/)