Genetic counseling

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence Education about inheritance, testing, management, prevention, resources Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Although initially well-intentioned, ultimately the movement had disastrous consequences; many states in the United States had laws mandating the sterilization of certain individuals, others were not allowed to immigrate and by the 1930s these ideas were accepted by many other countries including in Germany where euthanasia for the "genetically defective" was legalized in 1939. This part of the history of genetics is at the heart of the now "non directive" approach to genetic counseling. Sheldon Clark Reed coined the term genetic counseling in 1947 and published the book Counseling in Medical Genetics in 1955. Most of the early genetic counseling clinics were run by non-medical scientists or by those who were not experienced clinicians. With the growth in knowledge of genetic disorders and the appearance of medical genetics as a distinct specialty in the 1960s, genetic counseling progressively became medicalized, representing one of the key components of clinical genetics.

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Re-use of patients’ health records can provide tremendous benefits for clinical research. Yet, when researchers need to access sensitive/identifying data, such as genomic data, in order to compile cohorts of well-characterized patients for specific studies, privacy and security concerns represent major obstacles that make such a procedure extremely difficult if not impossible. In this paper, we address the challenge of designing and deploying in a real operational setting an efficient privacy-preserving explorer for genetic cohorts. Our solution is built on top of the i2b2 (Informatics for Integrating Biology and the Bedside) framework and leverages cutting-edge privacy-enhancing technologies such as homomorphic encryption and differential privacy. Solutions involving homomorphic encryption are often believed to be costly and immature for use in operational environments. Here, we show that, for specific applications, homomorphic encryption is actually a very efficient enabler. Indeed, our solution outperforms prior work by enabling a researcher to securely compute simple statistics on more than 3,000 encrypted genetic variants simultaneously for a cohort of 5,000 individuals in less than 5 seconds with commodity hardware. To the best of our knowledge, our privacy-preserving solution is the first to also be successfully deployed and tested in a operation setting (Lausanne University Hospital).

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Privacy-Preserving Exploration of Genetic Cohorts with i2b2 At Lausanne University Hospital

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Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration.

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.