Lisa N. Geller

Individual, family, and societal dimensions of genetic discrimination: A case study analysis

AbstractBackground. As the development and use of genetic tests have increased, so have concerns regarding the uses of genetic information. Genetic discrimination, the differential treatment of individuals based on real or perceived differences in their genomes, is a recently described form of discrimination. The range and significance of experiences associated with this form of discrimination are not yet well known and are investigated in this study. Methods. Individuals at-risk to develop a genetic condition and parents of children with specific genetic conditions were surveyed by questionnaire for reports of genetic discrimination. A total of 27,790 questionnaires were sent out by mail. Of 917 responses received, 206 were followed up with telephone interviews. The responses were analyzed regarding circumstances of the alleged discrimination, the institutions involved, issues relating to the redress of grievances, and strategies to avoid discrimination. Results. A number of institutions were reported to have engaged in genetic discrimination including health and life insurance companies, health care providers, blood banks, adoption agencies, the military, and schools. The alleged instances of discrimination were against individuals who were asymptomatic and sometimes impacted on other asymptomatic relatives. Few surveyed respondents knew of the existence of institutions such as state insurance commissions or the Medical Information Bureau, Inc., which may play roles in redress of grievances or correction of misinformation. Conclusions. Genetic discrimination is variable in form and cause and can have marked consequences for individuals experiencing discrimination and their relatives. The presence of abnormal genes in all individuals makes each person a potential victim of this type of discrimination. The increasing development and utilization of genetic tests will likely result in increased genetic discrimination in the absence of contravening measures.

Genetic Discrimination and Screening for Hemochromatosis

Recent advances in tests for the genotype for hemochromatosis and suggestions that the tests be used in mass screening programs for the disease raise the possibility of a large increase in the incidence of discrimination against people who are found to be homozygous for hemochromatosis. This paper presents cases of genetic discrimination drawn from a study of discrimination against people with a variety of genetic conditions. The cases discussed here involve employment and several types of insurance discrimination against people diagnosed with hemochromatosis who either are currently asymptomatic or whose condition is controlled by means of phlebotomies. There is no justification for these types of discrimination since people with controlled hemochromatosis suffer no excess mortality or morbidity. Our study suggests that genetic discrimination is already a serious problem and that any proposed screening program for hemochromatosis or other genetic condition must consider and attempt to mitigate its effects.

Using Dialogues to Explore Genetics, Ancestry, and Race

Abstract Teaching the topic of genetics in relationship to ancestry and race generates many questions, and requires a teaching strategy that encourages perspective-based exploration and discussion. We have developed a set of dialogues for discussing the complex science of genetics, ancestry, and race that is contextualized in real human interactions and that contends with the social and ethical implications of this science. This article provides some brief historical and scientific context for these dialogues, describes their development, and relates how we have used them in different ways to engage diverse groups of science learners. The dialogue series can be incorporated into classroom or informal science education settings. After listening to or performing the dialogues and participating in a discussion, students will: (1) recognize misunderstandings about the relationship between DNA and race; (2) describe how DNA testing services assign geographic ancestry; (3) explain how scientific findings have been used historically to promote institutionalized racism and the role personal biases can play in science; (4) identify situations in their own life that have affected their understanding of genetics and race; and (5) discuss the potential consequences of the racialization of medicine as well as other fallacies about the connection of science and race.

Comparing treatments for idiopathic sudden sensorineural hearing loss.

In 2008, the US Institute of Medicine issued ‘Knowing What Works in Health Care: A Roadmap for the Nation’ and stated that patient care should be based on “the conscientious, explicit, and judicious use of current best evidence” [101]. The challenges for this endeavor are legion. They must include overcoming hur‐ dles to performing comparative effectiveness research (CER) and encouraging healthcare providers to adopt practices in accordance with the findings of CER. In May 2011, Rauch et al. published results of a multicenter, randomized, prospective, comparative effectiveness trial of oral corticosteroids versus intra‐ tympanic steroid injections for sudden sensorineural hearing loss (SSNHL) [1], an idiopathic condition that strikes 1:5000 people annually. Oral treatment has been standard practice since a landmark paper in 1980 demonstrated efficacy [2]. Intratympanic therapy has gained wide popularity in the last 10–15 years, largely based upon the assumption that intratympanic injection could achieve higher drug concentrations at the target inner ear with less risk of the systemic side effects of oral steroid therapy. Using a noninferiority design, no difference in effectiveness was found between the two treatments. In cases with the most severe hearing loss there was actually a slight trend for better outcome in the oral treatment group. It was also found that both treatment groups exhibited similar rates of the expected and easily managed side effects associated with corticosteroids. From these data, it was concluded that oral treatment should remain the standard of care, but that intratympanic administration was a suit‐ able alternative if, in the judgment of the physician and patient, there were other reasons to opt for intratympanic treatment. While the objective of the SSNHL study was to compare two drug treatments, several other issues were illuminated, issues that have greater general relevance than just treating SSNHL. First, it is notable that a prescription for oral prednisone costs approximately US

Isolating Developmentally Important Genes from the Lobster Nervous System

6 while, during the years of the SSNHL study, physician reimbursement for a series of intratympanic steroid injections was US

Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease.

2700 per patient. In January 2011, the US Center for Medicare and Medicaid Services (CMS) pub‐ lished a revised policy for reimbursement of intratympanic drug therapy. The new policy eliminated the 90‐day ‘global’ reimbursement and implemented a fee of US

The Double-Edged Helix: Social Implications of Genetics in a Diverse Society

172 per injection. Most patients receive a series of four injections, at a total cost of US

Alzheimer's disease, Down's syndrome, and chromosome segregation

688. The SSNHL study intended to develop evidence to support best clinical practices. However, we must consider the possibility that financial incentives may sometimes be stronger than evidence as a driver of practice patterns. Because CMS reduced the financial incentive to inject corti‐ costeroids into the ear at about the same time that evidence of equivalence with oral steroid treatment was published, we will never know if the expected future decline in intratympanic therapy was driven by one or the other. Concordance or Harvard Medical School, Mass. Eye & Ear Infirmary, Boston, MA, USA *Author for correspondence: Tel: +1 617 573 3644 Fax: +1 617 573 3939 steven_rauch@meei.harvard.edu Steven D Rauch*

Commentary on "The social responsibilities of biological scientists" (S.J. Reiser and R.E. Bulger)

We are examining the roles that specific gene expression play in development and behavior in the nervous system of the American lobster, Homarus americarus. In particular, we have isolated genomic DNA sequences that encompass several putative lobster genes— one possibly encoding a receptor for the steroid molting hormone, 20-hydroxyecdysone, and at least one homologous to the family of mammalian genes encoding the biopterin-dependent amine hydroxylases (tryptophan hydroxylase, tyrosine hydroxylase, and phenylalanine hydroxylase). Tryptophan hydroxylase is the rate-limiting enzyme for the synthesis of serotonin, a developmentally regulated lobster neurohormone. The control of expression of these genes in individual lobster neurons can be assayed by in situ hybridization and could provide insights into the linkage between behavior, development, and gene expression in this organism.