Attend the Texas 2017 Genetics Conference to learn about the latest in newborn screening and genetics testing. The conference will be repeated in three cities.
Newborn screening is a state-mandated program that seeks to identify newborns who have a condition that benefits from early diagnosis and treatment to prevent morbidity and mortality. Several components are used to determine which conditions are included in newborn screening across the United States. The reduction in cost of whole exome and whole genome sequencing is making this technology available in situations where it could not have been considered before. Sequencing provides a wealth of information, and some of the findings can be used to guide management and treatment decisions, while other results may not be understood and/or contribute to the current care of a patient. Some of the tests that are administered in current newborn screening programs could theoretically be replaced with genome sequencing, however special issues need to be considered when a newborn is the subject of genome sequencing. Attend this session to hear more about where we are in genomic testing and newborn screening, as well as where we are headed.
In the past, non-invasive prenatal tests were only recommended for women at high risk for carrying a baby with a chromosomal abnormality. High risk pregnancies include moms-to-be who are 35 or older, previously had a child with a genetic disorder, have a family history of a genetic condition, or concern about the results of another prenatal test. Today, genetic screening is offered to all pregnant women and usually discussed during the first prenatal visit. The decision to test is a personal one, and it is important for the family to understand the meaning of a test that is normal or not normal. The counseling phase is important. Attend this session to review available tests, current guidelines, and learn how to discuss the testing process and results with parents-to-be.
Genetic diagnoses or test results have significant and far-reaching implications for family members. Issues include the impact of testing on children and adolescents, identification of untreatable conditions, misattributed paternity, and results of unknown significance. Feelings can include shock, denial, alienation, sadness, and futility. Sometimes feelings of guilt and blame can be channeled into efforts at risk reduction through environmental modifications. There may also be relief in understanding what the family will confront in the future. It is important that patients understand the cause of the disorder and their inability to cause or change genetic risk. During this panel discussion, both physicians and patients will discuss the impact of genetic testing results on families.
Multiple tests can be ordered by a clinician, including chromosome analysis, microarrays, pharmacogenomic panels, whole exome sequencing (analysis of the coding regions of thousands of genes) and analysis of the entire genome (coding and non-coding regions). This session will review the tests available including their indications for ordering a specific test, and the advantages and disadvantages of each test (e.g. cost, false positive and false negative rates, etc.). Attend this session to learn about when to order these tests and what the results will mean.
Published scientific articles and media coverage promise improvements in the nation’s health through advances in genomic medicine. For example, on-going genomic research is changing the approach to the use of certain drugs, allowing clinicians to predict adverse effects or the need for increased or reduced dosage in patients. As research and medicine share genomic data, physicians are being armed with new information and ways to diagnose and treat complex diseases in the pediatric or adult population to improve outcomes. Attend this session to review attempts to evaluate the health benefits of genomic tests and targeted interventions and how they can be delivered in real world practice.
Genetic testing will continue to play an increasing role in the practice of pediatrics, obstetrics, gynecology and medical practices overall. To ensure the highest quality of care, physicians should be familiar with the currently available array of genetic tests, as well as the tests' limitations. Because of the rapid pace of development in this area, clinicians also need to maintain ethical competence in the face of this evolving science. Clinicians should be able to identify patients within their practices who are candidates for genetic testing as well as know how to discuss the ethical considerations associated with testing. Attend this session to hear case studies and learn about the pros and cons related to the ethics of genetic testing.