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This interactive case discussion was created to emphasize the clinical relevance of population genetics, but is also a suitable resource for teaching the basic principles of population genetics while relating them to human genetic variation. Our understanding of human genetic variation has deepened over the past decade due to fine-scale genome mapping. Applying this knowledge to the evaluation of ancestry-based genetic testing strategies, such as direct-to-consumer genetic testing, is an important component of the practice of culturally-competent medicine and a relevant way to teach the foundations of population genetics, including Hardy-Weinberg equilibrium.

Genetic research is leading to the development of more genetic tests that can be used for the diagnosis of genetic conditions. Genetic testing is available for infants, children, and adults. Genetic tests can be used to diagnose a disease in an individual with symptoms and to help measure risk of developing a disease. Adults can undergo preconception testing before deciding to become pregnant, and prenatal testing can be performed during a pregnancy. Results of genetic tests can help physicians select appropriate treatments for their patients.

She says people became much more willing to talk about their genetic predispositions and seek out testing for conditions like Alzheimer's disease and cystic fibrosis. The number of patients seeking genetic counseling and testing has increased dramatically, according to a 2014 study that looked at how Jolie's announcement affected interest in testing. But the number of genetic counselors, the people who help both doctors and patients make sense of these tests, hasn't expanded enough to keep up with that demand. There are just 4,000 certified genetic counselors in the country today. That's one for every 80,000 Americans.

Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs) and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a "risk" allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders.

In this lesson, students explore some of the risks and benefits of gene-based medicine. They look at concerns related to genetic testing (which looks for particular genetic variations) and personal genome sequencing (which sequences the entire genome of an individual). Through videos and discussions, students learn about existing technologies for genetic testing and therapies. They also explore matters such as the emotional consequences of genetic testing, discrimination, and privacy issues. In small groups, students discuss scenarios and then share and analyze related opinions and concerns.

Genetic tests are now available to look for specific heritable diseases like Huntington's, assess your risk of developing conditions like heart disease, and more. Learn about four different types of genetic testing and take our poll. Would you take these tests yourself?

This directed case study follows the story of "Pauline," a 20-year-old college student who has just received results from a personal genetic testing kit she purchased online. The report shows a negative result for variants of the BRCA 1 and 2 genes, which are associated with a greater risk for breast cancer. Although Pauline has a family history of breast cancer, she concludes that she no longer needs to be concerned, or does she? As students work through the questions in this case study, they review the role of genes and how they code for proteins as well as the effects of proteins on health, especially on cellular growth regulation and cancer. They also learn about the process of genetic testing and consider the ramifications of positive and negative tests for diseases or health conditions, especially with respect to breast cancer. The case is designed for non-science majors in a scientific methods course and could also be used in an introductory biology course. The questions in the case could be adapted for an upper level genetics class.

This interrupted case study for the flipped classroom applies evolutionary genetics research to human health. Students learn about a naturally occurring, but rare, allele of the CCR5 gene, CCR5-Δ32, which provides resistance to HIV. They use data from primary literature sources to predict and interpret worldwide patterns of CCR5-Δ32 frequency distribution. They then discuss how these allele frequency patterns may have been driven by selection imposed by various diseases or by other evolutionary mechanisms. Next, they test published data using Hardy-Weinberg equilibrium to examine if CCR5-Δ32 also provides genetic resistance to West Nile virus. Finally, they complete a jigsaw discussion of Nature News articles that report on how CCR5 research is being used to develop therapies to treat HIV. Originally written for the evolution portion of a yearlong biology series for undergraduate majors, the case is also appropriate for some non-majors biology courses or, with added complexity, upper-level evolution, genetics, or cell biology courses.

curricular unit on genetic testing

This video excerpt from NOVA examines the dilemma some people face when they are deciding whether to undergo genetic testing. Journalist Catherine Elton describes her decision to refuse a test for BRCA1, a mutation that signals an increased risk of breast and ovarian cancers, despite the history of disease in her family. The video also explains that genetic testing results can help some individuals improve their wellness, prevent the onset of diseases they are at risk for, or lessen the harmfulness of diseases they do contract.

This directed case study was developed in order to present genomic data to students, allow them to interpret the impact of genetic variations on phenotype, and to explore precision medicine. Students are introduced to "Josie," a college sophomore who decides to have her genome sequenced after learning about genome-wide association studies (GWAS) in class. As students work  through the case, they learn about the different technologies that can be used in GWAS studies and interpret Josie's results for a subset of genetic markers that affect a range of traits from pharmacogenetics to disease risk alleles and non-pathogenic traits. Students are confronted with ethical issues such as duty to inform, actionable results, and variants of unknown significance (VUS). Students are also asked to reflect on their feelings about getting genomic testing for themselves. An optional activity for advanced students (included in the teaching notes) involves using the Gene database at NCBI to explore variants of the CYP2C9 gene. The case study is appropriate for use in undergraduate genetics or molecular biology classrooms.

This video excerpt from NOVA uncovers the genetic mystery that nearly killed Alexis, now 14, and introduces the debate surrounding genetic testing at birth. After diagnosing Alexis and her twin brother Noah with cerebral palsy at a young age, doctors later discovered that the twins shared a rare genetic mutation that led to a condition that mimics cerebral palsy. The twins improved after receiving treatment, but then Alexis took a turn for the worse. Thanks to whole genome sequencing, doctors discovered a second problem linked to the mutation and gave her a different treatment that saved her life.

his resource describes an inquiry-based, in-class exercise designed for students working in small groups. It is designed to review and enrich student understanding of probability, how probabilities of individual events can be combined to make predictions about more complex outcomes, and how observed data can be compared to a null model based on probabilities using a chi-squared test. These skills are used extensively for classical genetic analysis. Throughout the activity, peers and instructors guide students through the process of developing and solving problems using probabilities and chi-squared tests in small groups.

"Bioethics is the study of ethical, legal, and social issues raised by advances in biology and medicine. Bioethics addresses a range of controversial topics, including privacy and fairness in the use of genetic information, integration of new technologies, such as genetic testing, into medical practice, and the design and conduct of research studies and clinical trials.  "

In this directed case study students follow a nurse practitioner and work with a diagnostics team to determine what is wrong with Tristan, an infant who comes to the clinic with multiple bruises. Students are given background and patient history, and are then given results of various blood tests ordered by the diagnostics team. The exercise emphasizes the physiological process of coagulation and the importance of various clotting factors, especially factor VIII. Students will be introduced to results from several blood tests, including: complete blood count, partial thromboplastin time, prothrombin time, metabolic panel, and factor VIII assay. The patient is ultimately diagnosed with severe hemophilia A and the case then introduces students to this disorder, the genetic determinants, the incidence, and ways to manage the disease. The data in this case are real and the story represents the medical history of an actual patient. Originally developed for pre-nursing students, this activity would also be suitable for majors in physiology or pre-medical students; it could also be used in an introductory genetics or biology course.

The Aedes aegypti mosquito is the major vector for transmission of numerous viral diseases, including yellow fever, dengue, and now, Zika. Interestingly, different subspecies of A. aegypti are known to exist in close proximity but with considerable genetic divergence between them. One major difference between a "forest" form and a "domestic" form is a strong preference in the latter subspecies for human over non-human blood biting. This difference was explored with genetic and neurophysiological approaches by a research group at Rockefeller University and published in a 2014 paper in Nature. This flipped case study uses parts of the Nature paper to focus on elements of the scientific method as well as evolutionary questions raised by the difference in biting preference between the two subspecies. Students prepare for class by watching a video that provides background information about the published study that forms the basis for the case. In class students then work in groups to develop a hypothesis, predictions and proposed experiments to test the idea of different biting preferences.

Within a year, Stein's team had designed a clinical trial protocol that turned standard research practices around 180 degrees, launching what it now calls the Signature Clinical Trial Program. Instead of a patient traveling to one of several research sites, Novartis would send the investigational drugs to his or her local oncologist's office. Instead of testing hundreds or thousands of genetically unscreened patients, the company would accept only patients who had the genetic markers the drugs were supposed to target. Instead of waiting months, patients could access the treatments in two or three weeks. Instead of running a large-scale trial to investigate one or two questions, clinicians could conduct smaller, rapid proof-of-concept studies to quickly rule out the tumor types that don't respond to a study agent and identify other tumor types that are potentially treatable with the drug and worthy of further study.

In the Oct. 30 edition of Science, scientists describe strains of laboratory mice bred to test the role of an individual's genetic makeup in the course of Ebola disease. Systems biologists and virologists Angela Rasmussen and Michael Katze from the Katze Laboratory at the University of Washington Department of Microbiology led the study in collaboration with the National Institutes of Health's Rocky Mountain Laboratories in Montana and University of North Carolina at Chapel Hill.

What if sideline rage could be nipped in the bud with a quick genetic test that told Mom and Dad what sports - if any - Junior could master? The Boulder, Colo., company Atlas Sports Genetics today began selling just that sort of product: for $149, it says it will screen for variants of the gene ACTN3

This video segment adapted from NOVA scienceNOW examines the realm of personal DNA testing. It describes the latest tests, which look for single-nucleotide polymorphisms (SNPs). These single-letter differences in DNA sequence make humans unique from one another but may also predispose people to certain diseases. The video also discusses the Personal Genome Project, an extension of the Human Genome Project aimed at determining the root causes of many common diseases. The Personal Genome Project takes into account personal genomics as well as lifestyle information, such as one's living environment, habits, and behaviors.