Reaffirming Affirmative Action

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The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing

Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Whole exome sequencing (WES) in its recent clinical application provides a genetic diagnosis in about 25% of cases (Berg 2014). While this diagnostic yield is substantial, it also indicates that in a majority of cases, patients are receiving negative results (i.e., no explanatory genetic variant found) from this technology. There are a number of uncertainties regarding the meaning of a negative result in the current context of WES. A negative result may be due to current technological limitations that hinder detection of disease-causing variants or to gaps in the knowledge base that prohibit accurate interpretation of their pathogenicity; or it may indicate that there is not a genetic etiology for the disorder. In this paper we examine the uncertainties and nuances of the negative result from genome sequencing and how both clinicians and patients make meaning of it as revealed in ethnographic observations of the clinic session where results are returned, and in interviews with patients. We find that clinicians and patients construct the meaning of a negative result in ways that are uncertain, contingent, and multivalent; but invested with optimism, promise, and potentiality

Conflicted Conceptions: An Ethnography of Assisted Reproduction Practices in Argentina

In this ethnography, I focus on the community of reproductive medicine professionals in Argentina to examine how assisted reproductive technologies (ART) are transformed according to local conditions of practice, as well as how they are transformative of the societies they newly inhabit. Based on three continuous years of ethnographic, interview and archival research conducted primarily in Buenos Aires, my findings reveal that the production of ART in a given place is not a culturally-neutral process, but rather involves local forms of science, medicine, modernity, morality and choice. In chapter one, I give a contextual history of how ART began in Argentina, and locate today's Argentine infertility specialists within a transnational network of training, scientific prestige, innovation and competition. In chapter two, I examine the specificities of the local production of ART in Buenos Aires, which include a series of moral positions on family, motherhood, and the role of the Catholic Church in medical practice, as well as creative maneuverings around legal, economic and political constraints. In chapter three, I analyze the practice of gamete donation in Argentina, in which beliefs about genetic inheritance, options for family making, and the market-side of reproductive medicine all intersect. In chapter four, I focus on the problematic of the morally and legally ambiguous embryo, and examine two techniques in particular, embryo cryopreservation and preimplantation genetic diagnosis (PGD), to illustrate how medical and scientific protocols are translated to fit local conditions of practice. Throughout these chapters I argue that the production of these medical technologies are shifting deeply rooted beliefs about the sanctity of human life and the role of technology in manipulating that life. I conclude that currently in Argentina the reproductive medicine professionals who provide ART to the public are society's moral guardians, diagnosing the healthy body and family, defining when personhood begins, and dictating what protections are due human life. In the last instance, this cultural analysis is revealing not only of assisted reproduction practices in Argentina, but also circulates back to inform the production of ART as a global medical technology

Enacting genetic responsibility: experiences of mothers who carry the fragile X gene: Experiences of mothers who carry the fragile X gene

A woman who carries the gene for fragile X syndrome (FXS) has a 50 per cent chance per pregnancy of passing the gene to her sons and daughters. In this paper we analyse interview data from mothers who are carriers of the FX gene, and who have at least one child with FXS, to examine how their understandings and enactments of reproductive options, obligations, and responsibilities support an expanded notion of genetic responsibility. Accounts of 108 women from across the United States show that the majority of mothers chose not to have another biological child once they learned their carrier status. They discussed genetic responsibility and reproductive agency in terms of an obligation not to risk having another child who carried the gene, although their accounts reflected the tensions that arose from managing oneself as a genetically at-risk actor. Another 22 mothers either purposefully became pregnant or continued an unplanned pregnancy after finding out their carrier status. These mothers' accounts reflect an expanded version of genetic responsibility that incorporates ideas and values beyond managing risk in what it means to act responsibly in light of genetic knowledge

Negotiating desires and options: How mothers who carry the fragile X gene experience reproductive decisions

This paper contributes an empirically-based analysis of how women negotiate reproductive desires and constructions of risk in light of genetic information for a single gene disorder with known inheritance patterns. Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and female carriers have a 50% probability with each pregnancy of transmitting the FX gene. We present data from interviews conducted with 108 mothers across the U.S. who participated in a longitudinal, mixed methods study on family adaptations to FXS and who have at least one child with FXS. Women’s accounts of their reproductive desires, actions, and reasoning indicate that the known 50% risk of transmitting the FX gene was a powerful deterrent to attempting to have more children through unmediated pregnancy. The majority (77%) decided not to have any more biological children after carrier diagnosis. This decision often required revising previous plans for how many children they would have, how and when they would have them, and what kind of mothers they would be. However, genetic risk was not a primary consideration in the reproductive calculations of 22 women who chose to continue planned and unplanned unmediated pregnancies. Though women’s reproductive negotiations are constrained by medical discourse and practices, they are also unpredictable and emerge out of lived experiences and sometimes ambivalent ways of reckoning. While increased availability and accuracy of genetic information and testing contribute to certain forms of family planning that prioritize genetic risk management, we also find that some families call upon alternative understandings and desires for making a family to articulate genetic risk and negotiate their reproductive futures

The Role and Responsibility of Traditional Media

When high profile legal issues arise, the traditional media attempts a familiar balancing act, weighing ethical obligations of fairness, accuracy and objectivity against the necessity for timely and competitive reporting. This mission, in itself, requires careful execution. But there is significantly more pressure in recent years, due to a voracious 24-hour news cycle, competition by new media entities that have high-tech speed and occasionally choose to remain unfettered by journalistic ethics, and challenging economic realities. In Panel #1: The Role and Responsibility of Traditional Media, moderator Sara Beale, the Charles L. B. Lowndes Professor of Law at Duke University School of Law, talks with a panel of veteran reporters, journalism academics, and experts in the legal side of journalism. The far-ranging discussion covers the basic tenets of journalistic ethics, famous journalistic controversies, and the difficulties faced by print reporters who increasingly have to cover more ground with fewer resources. Questions/themes/discussion topics Balancing speed and accuracy The effect of smaller newsrooms and fewer reporters, especially in the world of print journalism Resisting manipulation by sources Media criticism, from ombudsmen to bloggers Historically bad journalism, from McCarthyism to Jayson Blai

Structural revelations of photosynthesis' membrane protein complexes

Photosynthetic organisms appeared early in evolution and their photosynthetic apparatus has evolved along. The first bacteria carried out only anoxygenic photosynthesis catalyzed by one type of reaction center, type I or II, which somehow came together in cyanobacteria, and evolved into photosystems I and II. This was an evolutionary step that enabled cyanobacteria to carry out oxygenic photosynthesis. The photosystems have the unique capacity to perform and fix energy in a process where water splitting and oxygen evolution takes place, providing planet Earth with an essential molecule for development of life, i.e. Oxygen. Throughout evolution, primordial organisms became more complex upon colonizing diverse environments resulting into the current day sophisticated systems. Nevertheless, the photosystems have preserved their vital mechanisms of sunlight conversion with PSI at almost 100% efficiency, and PSII’s unique water splitting property. Important about photosynthesis systems are the high-energy conversion efficiency and oxygen evolution besides hydrogen generation by some organisms like cyanobacteria. These features are precious global demands for efficient sun utilizing devices, environmental concerns and current economics of alternative energy source to fossil fuel depletion. The diversity of the photosynthesis proteins due to evolution upon adaptation and exploitability is intriguing for researchers from all fields of science to understand aspects of structural diversity, function and dynamics. This work is highly complementary and has been carried out in multidisciplinary collaborations to get more impact for understanding the photosynthesis systems that evolved early or later. The results of which can be integrated into applied technology.

A Speleothem Record of Hydroclimate Variability in Northwestern Madagascar during the Mid-Late Holocene

We present a continuous high-resolution precisely dated multiproxy record of hydroclimate variability at Anjohibe in northwestern Madagascar using speleothem AB13. The record spanned ~4,484 to ~2,863 years BP and showed general agreement with previously published speleothem records from the same approximate location. However, a speleothem record from Rodrigues Island, located ~1,600 km to the east of Madagascar, did not align, suggesting that paleoclimate records from Rodrigues Island may not serve as accurate proxies for northwestern Madagascar, as has been previously suggested. Stalagmite AB13 also provides a detailed record of rainfall variability during the 4.2 ka event, the abrupt climate disturbance associated with the collapse of several early human civilizations. Between ~3,900 – 4,300 years BP, Anjohibe experienced two periods of moderate drying. The most significant climate perturbation in the record was a drought that lasted ~300 years with peak dryness at ~3,000 years BP. This extended drought may have contributed to the reduction of the local perennial wetland environments and thus may have implications for the extirpation of Malagasy pygmy hippopotamuses in this part of the dry deciduous forest