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Each new advance in genetic technology has simultaneously brought new ethical concerns and raised new dilemmas about how science will be applied and utilized in medicine. The most controversial field is prenatal genetics and reproductive choice, though national legal frameworks and cultural practices vary widely worldwide. Furthermore today there is the technical feasibility of all newborns having their genome sequenced and screened for either childhood disorders or adult-onset conditions [ 5 ].

Advances in genetics attract great media attention, and this has brought the ethical debate to a wide public scenario. Issues about insurance, forensic science and DNA databases, patenting, gene therapy, population screening, cloning, stem cell research, and hybrids are considered to have major societal, commercial, and political importance and therefore impact clinical and laboratory practice in medical genetics.

Medical Genetics Branch

On a global scale, it is essential to safeguard fundamental principles such as privacy, confidentiality, and respect for human life at all stages and ages. Many of the questions raised do not have easy or definitive answers, which means that there will be a great need for both public awareness and properly trained clinicians and counselors to balance the needs of their patients and families with these ethical challenges for the foreseeable future.

These examples include monogenic rare diseases where a different treatment is recommended for patients with some types of germline mutations in a specific gene, such as CFTR gene mutations that cause cystic fibrosis, and the molecular therapy targeted on an actionable somatic mutation of a specific tumor, such as the BRAF VE mutation in malignant melanoma.

Recent initiatives are focusing on improving health outcomes through precision medicine especially in Oncology [ 8 ] Table 1. This is a multidisciplinary integrated approach that analyzes human samples and personal data to improve health care through increased precision in the knowledge of mechanisms of both disease and drug response. Personalized genomic medicine PGM is only one component of precision medicine, which means, in a broadest sense, it requires clinical care providers to combine genomic information with other types of information, such as biochemical or physiological testing results, neurodevelopmental history, environmental exposures, and psychosocial experiences.

The most important goal is provide more precise diagnosis, genetic counseling, management, prevention, and therapy. This effort has already got started, but plenty of work still needs to be done before PGM becomes integrated into medicine itself. Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution 3. Help us write another book on this subject and reach those readers. Login to your personal dashboard for more detailed statistics on your publications.

We are IntechOpen, the world's leading publisher of Open Access books. Built by scientists, for scientists. Our readership spans scientists, professors, researchers, librarians, and students, as well as business professionals. Downloaded: Introduction Modern medical genetics as a well-defined field of medicine has developed so fast since its origins half a century ago that we cannot bear in mind how long time ago its roots and beginnings came from.

Modern genomics in medicine During the years, with developments in cellular and molecular biology, the field of medical genetics expanded from a small clinical subspecialty focused at describing a few rare hereditary disorders to a recognized medical specialty whose principles and approaches are essential parts of the diagnosis and management of many disorders, both common and rare.

Ethical dilemmas Each new advance in genetic technology has simultaneously brought new ethical concerns and raised new dilemmas about how science will be applied and utilized in medicine. Table 1. Funded by the German Research Foundation DFG , he spent three months as a visiting scholar in the Biochemical Genetics Laboratory at Duke University before he started fellowship training in clinical genetics and clinical biochemical genetics, also at Duke.

Individualized Medical Genetics: Camryn’s Story

In late , during his third year of fellowship training, Dr. Matern moved to the Mayo Clinic where he completed his training and became co-director of the newly created Biochemical Genetics Laboratory. Upon being elected, Dr. I look forward to working with the board to address the many and sometimes challenging opportunities for genetics and genomics, and hope to hear particularly from ACMG's Biochemical Geneticists to ensure I represent our subdiscipline effectively and fairly.

View the full article here. About the ACMG ACMG was founded in and is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. To learn more, visit ACMG.

Your email address will not be published. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian.

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Medical Genetics Institute | Cedars-Sinai

Pyeritz focuses his research in two areas — Mendelian disorders of the cardiovascular system especially those involving defects of connective tissue and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions — diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated.

Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia HHT.

Very few books can be compared to this one. This is a must-have textbook with features that make it a unique source for medical geneticists" Luis F. Escobar, Shock , ; doi: It is a body of experience from which we can all learn and to which I suspect most of us will continue to turn on a regular basis" Willie Reardon, J Med Genet ; doi We are always looking for ways to improve customer experience on Elsevier.


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Institutional Subscription. Free Shipping Free global shipping No minimum order. History of Medical Genetics 1. Medicine in a Genetic Context 2. Nature and Frequency of Genetic Disease 3. Genomics and Proteomics 4. Genome and Gene Structure 5.

Medical Genetics

Epigenetics 6. Acknowledgments References Further Reading Chapter 8. Genes in Families 8. Analysis of Genetic Linkage 9. Chromosomal Basis of Inheritance Multifactorial Inheritance and Complex Diseases Population Genetics Pathogenetics of Disease Human Developmental Genetics Twins and Twinning The Molecular Biology of Cancer Pharmacogenetics and Pharmacogenomics Genetic Evaluation for Common Diseases of Adulthood Genetic Counseling and Clinical Risk Assessment Cytogenetic Analysis Diagnostic Molecular Genetics Heterozygote Testing and Carrier Screening Techniques for Prenatal Diagnosis Neonatal Screening Therapies for Lysosomal Storage Diseases Ethical and Social Issues in Clinical Genetics Legal Issues in Genetic Medicine Genetics of Female Infertility in Humans Genetics of Male Infertility Fetal Loss A Clinical Approach to the Dysmorphic Child Clinical Teratology Abnormal Body Size and Proportion Susceptibility and Response to Infection Transplantation Genetics Abbreviations Autosomal Trisomies Sex-Chromosome Abnormalities