Poorly understood, linked in complex ways to ideas about race and European identity, and the focus today of an ethically vexed and rapidly expanding testing industry, cystic fibrosis is a relatively common life-threatening genetic disorder in the United States, the United Kingdom, and the European Union. Many genetic diseases are invisible to the general public, but CF is a high-profile genetic disease, often characterized as a “white” disease though it occurs in many populations. Over the last five years (...) it has become the focus of genetic screening programs of many kinds, but especially for newborns, all over the world. CF is also a scientifically interesting genetic disease. By the simple if imperfect .. (shrink)

A recent study by Castellani et al. (JAMA 302(23):2573–2579, 2009) describes the population-level effects of the choices of individuals who underwent molecular carrier screening for cystic fibrosis (CF) in Veneto, in the northeastern part of Italy, between 1993 and 2007. We discuss some of the ethical issues raised by the policies and individual choices that are the subject of this study. In particular, (1) we discuss the ethical issues raised by the acquisition of genetic information through antenatal carrier (...) testing; (2) we consider whether by choosing to procreate naturally these couples can harm the resulting child and/or other members of society, and what the moral implications of such harm would be; (3) we consider whether by choosing to avoid natural procreation carrier couples can harm current or future individuals affected by cystic fibrosis; (4) we discuss whether programs that make carrier testing available can be considered eugenic programs. (shrink)

The advent of prenatal genetic diagnosis has sparked debates among ethicists and philosophers regarding parental responsibility towards potential offspring. Some have attempted to place moral obligations on parents to not bring about children with certain diseases in order to prevent harm to such children. There has been no rigorous evaluation of cystic fibrosis in this context. This paper will demonstrate cystic fibrosis to have unique properties that make it difficult to categorise among other diseases with the (...) goal of promulgating a reproductive rule. Once this is established, it will be demonstrated that procreative rules that appeal to future health are inadequate in the era of advancing genetic knowledge. Utilising a specification of Joel Feinberg's ‘open future’ concept outlined by Matteo Mameli, it will offer an analysis of parental obligation that does not constrain parents of potential children with cystic fibrosis with a moral obligation not to bring them about. (shrink)

It may be unethical to deny children with cystic fibrosis access to ethically approved clinical trials from which they might benefitDespite advances in nutritional management, aggressive antibiotic usage, and physiotherapy, cystic fibrosis remains a life limiting illness with high morbidity that imposes considerable burdens on children and families.1 Although survival to 40 years is predicted for children born in 1990s, the median age of death in 2003 was 24.2 years .The pathophysiological features of CF are produced (...) by a defective gene on chromosome 7, resulting in the defective production of a protein that regulates cellular ion transport. Defective ion transport is thought to lead to increased mucus viscosity , with poor airway clearance, recurrent bacterial infection, lung damage, and death.Gene therapy , the insertion of a normally functioning gene into deficient host cells using a suitable vector, is a potential treatment or cure for diseases produced by single gene defects—for example, CF. Gene therapy does, however, have potential or actual risks, leading many to suggest that evidence of efficacy in adults should be demonstrated before trials are conducted in children. Many serious diseases in adults such as CF have their onset in childhood. If early treatment provides greater hopes of benefit, children may be more appropriate targets for GT in CF than adults. It may be unethical to deny them access to properly constructed, ethically approved clinical trials from which they might benefit.Since research in children should be scientifically valid, in the child’s best interests, and the subject of valid consent, this article will consider these parameters in relation to trials of GT in children with CF. Because of the importance of consumer participation in the design of research we present the results of a questionnaire about GT trials delivered …. (shrink)

Abstractabstract:Long before COVID-19 made social distancing familiar, people with cystic fibrosis (CF) already practiced such behaviors. CF is held up as a classic example of genetic disease, yet people with CF are also susceptible to bacteria from the environment and from other CF patients. Starting in the 1980s, a bacterial epidemic in the CF population highlighted clashing priorities of connection, physical safety, and environmental protection. Policymakers ultimately called for the physical separation of people with CF from one another (...) via recommendations that reconfigured the CF community. Simultaneously, medical researchers recognized that one highly transmissible CF pathogen called cepacia was being developed for environmental applications and got the EPA to limit cepacia's environmental deployment. Environmental regulations speak to the challenge of useful microbes that harm a minority, but CF cross-infection also involves legal implications for microbial and genetic discrimination, social consequences for CF communities, and ethical questions about balancing autonomy, harms, and benefits. As scientists increasingly study connections between host genetics, microbial genetics, and infectious risks, CF is a vital referent. (shrink)

Technological advances force redefinition of action-mandating concepts and language through complex social, political and economic tendencies that collectively determine what has been dubbed “the technological imperative.” The reverse is also true: redefinition of concepts shapes and guides the direction of technological development through shaping public beliefs and expectations. A powerful and far-reaching example of such occurred with the redefinition of “death” and the concept’s transformed relationship to transplantation technology.

The practice of communicating research findings to participants has been identified as important in the research ethics literature, but little research has examined empirically how this occurs and...

Targeting high-risk populations for public health interventions is a classic tool of public health promotion programs. This practice becomes thornier when racial groups are identified as the at-risk populations. I present the particular ethical and epistemic challenges that arise when there are low-risk subpopulations within racial groups that have been identified as high-risk for a particular health concern. I focus on two examples. The black immigrant population does not have the same hypertension risk as US-born African Americans. Similarly, Finnish descendants (...) have a far lower rate of cystic fibrosis than other Caucasians. In both cases the exceptional nature of these subpopulations has been largely ignored by the designers of important public health efforts, including the recent US government dietary recommendations. I argue that amending the publicly-disseminated risk information to acknowledge these exceptions would be desirable for several reasons. First, recognizing low-risk subpopulations would allow more efficient use of limited resources. Communicating this valuable information to the subpopulations would also promote truth-telling. Finally, presenting a more nuanced empirically-supported representation of which groups are at known risk of diseases (not focusing on mere racial categories) would combat harmful biological race essentialist views held by the public. (shrink)

In qualitative research into emotions, researchers and participants share emotion-laden interactions. Few demonstrate how the analytic value of emotions may be harnessed. In this article we provide an account of our emotional experiences conducting research with two groups: adults living with cystic fibrosis and spouse caregivers of cancer patients. We describe our emotion work during research interviews, and discuss its methodological and theoretical implications. Reflections depict competing emotion norms in qualitative research. Experiences of vulnerability and involuntary “emotional callusing” (...) illustrate the insight into participants’ experiences afforded to us through emotion work. This prompted us to extend Hochschild’s theory to incorporate unconscious activity mediated through habitus, allowing us to demonstrate how the “emotional” nature of emotions research can galvanize analytic insight. (shrink)

The prelims comprise: Introduction Types of Gene Selection Issues Relating to Gene Selection and Personal Autonomy Individual Autonomy in a Liberal Society Parental Choice Procreative Autonomy versus Children's Autonomy Conclusion Acknowledgments Note.

BackgroundBiobanks are considered to be key infrastructures for research development and have generated a lot of debate about their ethical, legal and social implications. While the focus has been on human genomic research, rapid advances in human microbiome research further complicate the debate.DiscussionWe draw on two cystic fibrosis biobanks in Toronto, Canada, to illustrate our points. The biobanks have been established to facilitate sample and data sharing for research into the link between disease progression and microbial dynamics in (...) the lungs of pediatric and adult patients. We begin by providing an overview of some of the ELSI associated with human microbiome research, particularly on the implications for the broader society. We then discuss ethical considerations regarding the identifiability of samples biobanked for human microbiome research, and examine the issue of return of results and incidental findings. We argue that, for the purposes of research ethics oversight, human microbiome research samples should be treated with the same privacy considerations as human tissues samples. We also suggest that returning individual microbiome-related findings could provide a powerful clinical tool for care management, but highlight the need for a more grounded understanding of contextual factors that may be unique to human microbiome research.ConclusionsWe revisit the ELSI of biobanking and consider the impact that human microbiome research might have. Our discussion focuses on identifiability of human microbiome research samples, and return of research results and incidental findings for clinical management. (shrink)

Francis Collins had an impressive track record as a gene hunter (cystic fibrosis, neurofibromatosis, Huntington’s disease) when he was appointed Director of the Human Genome Project (HGP) in 1993. In June 2000, together with Craig Venter and President Bill Clinton, he presented the draft version of the human genome sequence to a worldwide audience during a famous press conference. And in 2009, President Barack Obama nominated him as director of the National Institutes of Health (NIH), the largest Tfunding (...) agency for biomedical research in the world. s The In 2006, Collins published his book The Language of God,3 an autobiographical account of the HGP and its scientific, historical, and societal significance, with special attention paid to the impact of the human sequence on the way we see our world and ourselves.4 Now, by way of a sequel, he has written The Language of Life. Wherea Language of God focused on the genome sequence of mankind in general, and on the HGP as a “revolution” in biomedicine, the new book, as indicated by its subtitle, is oriented towards “the revolution in personalized medicine”, the impact of the genomics revolution on the personal lives of individuals. Before subjecting Collins’ book to a closer reading, I first of all would like to explain how I will read it and from what perspective. Why is genomics in general, and the HGP and its aftermath in particular, a subject of interest to a philosopher like me? Why did I become interested in assessing the HGP and in studying the work and views of some of its key contributors? (shrink)

This chapter contains sections titled: Introduction: No Need for Special Biological Laws? The Reductionist Principle Strong Emergence Complex Relations in Biology A Misinformed Slogan and Its Contributions Genes Causation Systems Biology Metaphysical Coda Postscript: Counterpoint Acknowledgments Notes References.

The Office of Human Research Protections was not justified in issuing findings against the SUPPORT Institutions. Our community can learn from the evolving healthcare transformation into learning health systems by thinking about the novel ethical issues about standard of care research raised by the SUPPORT with the same spirit of quality improvement. The current regulatory framework and the concept of foreseeable research risks is insufficient to advance the debate about the ethics of randomization of standard clinical interventions. This article uses (...) the example of the Wisconsin cystic fibrosis randomized clinical trial for newborn screening trial to explore the distinctions between risks of research and clinical care and waivers of informed consent for randomization. Collaborative exploration of these complex policy issues is needed and further deliberation, community engagement, and social science research will be critical to advance novel approaches for informed consent. (shrink)

Background It has been suggested that researchers are obliged to offer summary findings to research participants to demonstrate respect for persons, and that this may increase public trust in, and awareness of, the research enterprise. Yet little research explores researchers' attitudes and practices regarding the range of initiatives that might serve these ends. Methods Results of an international survey of 785 eligible authors of genetics research studies in autism or cystic fibrosis are reported. Results Of 343 researchers who (...) completed the survey (44% response rate), the majority agreed that their team should (i) inform participants of summary findings (90.7%) and (ii) ensure they gain an awareness of developments in the field (86.9%). Additionally, the majority reported that in practice, their team (i) informs participants of summary findings (69.4%) and (ii) provides other types of relevant non-results information (eg, state of science in the field, opportunities for research participation) (67.9%). Conclusion Researchers endorsed the obligation of communicating with research participants by providing summary findings and other research-related information in equal measure. In light of these findings, it is suggested that while the provision of summary results may contribute to efforts to discharge the obligation of respect for persons, it may be neither a necessary nor a sufficient means to this end. (shrink)

Mucoidy and cytotoxicity arise from two independent modifications of the phenotype of the bacterium Pseudomonas aeruginosa that contribute to the mortality and morbidity of cystic fibrosis. We show that, even though the transcriptional regulatory networks controlling both processes are quite different from a molecular or mechanistic point of view, they may be identical from a dynamic point of view: epigenesis may in both cases be the cause of the acquisition of these new phenotypes. This was highlighted by the (...) identity of formal graphs modelling these networks. A mathematical framework based on formal methods from computer science was defined and implemented with a software environment. It allows an easy and rigorous validation and certification of these models and of the experimental methods that can be proposed to falsify or validate the underlying hypothesis. (shrink)

Several recent articles raise an issue long unaddressed in the medical literature: physician compliance with patient or family requests for futile or ineffectice therapy. Although they agree philosophically that such treatment ought not be given, most physicians have followed the course described by Stanley Fiel, in which a young patient dying of cystic fibrosis was accepted “for evaluation” by a transplant center even though he has already passed the threshold of viability as a candidate for a heart-lung transplant. (...) Dr. Fiel reported this action was taken not in the hope of doing the transplant but so that the family could assure themselves they had done “everything possible.” The patient, after a long and stressful cross-country flight, arrived at the hospital in respiratory failure. He died soon thereafter far from home and familiar surroundings. (shrink)

We are essentially a society of cells that come from a single cell, the fertilised egg. Research in cell biology has made major advances that are relevant to medicine and our understanding of life. Our understanding of the role of genes and proteins is impressive. But is this science dangerous? The whole of Western literature has not been kind to cell scientists and is filled with images of scientists meddling with nature, with disastrous results.1 Just consider Shelley’s Frankenstein, Goethe’s Faust (...) and Huxley’s Brave New World. One will search with very little success for a novel in which scientists come out well—the persistent image is that of scientists as a group unconcerned with ethical issues.There is a fear and distrust of cell science, particularly genetic engineering, leading to genetically modified foods, genetic modification of humans, cloning and stem cells. There is something of a revulsion in humankind’s meddling with nature and a longing for a Rousseauish-like return to golden age of innocence. There is anxiety that scientists lack both wisdom and social responsibility and are so motivated by ambition that they will follow their research anywhere, no matter what the consequences. Scientists are repeatedly referred to as “playing God”. Many of these criticisms coexist with the hope, particularly in medicine, that science will provide cures to all major illnesses, such as cancer, heart disease and genetic disabilities such as cystic fibrosis. But is cell science dangerous and what are the special social responsibilities of scientists? It is worth noting one irony: although scientists are blamed for making us live in a high-risk society, it is only because of science that we know about these risks, such as those related to health.The media must bear much of the responsibility for the misunderstanding of genetics as genetic pornography is, …. (shrink)

Until approximately twenty years ago, advances in the study of human genetics had little influence on the practice of medicine. In the 1980s, this changed dramatically with the mapping of the altered genes that cause cystic fibrosis and Huntington disease. In just a few years, these discoveries led to DNA-based tests that enabled clinicians to determine whether prospective parents were carriers of CF or whether an individual carried the Huntington gene and, as a result, would almost certainly develop (...) the disease.Observers interested in the social and economic implications of genetic technology realized that such genetic tests could be used by insurance companies to predict which insurance applicants were likely to become ill or even die from these diseases. (shrink)

Until approximately twenty years ago, advances in the study of human genetics had little influence on the practice of medicine. In the 1980s, this changed dramatically with the mapping of the altered genes that cause cystic fibrosis and Huntington disease. In just a few years, these discoveries led to DNA-based tests that enabled clinicians to determine whether prospective parents were carriers of CF or whether an individual carried the Huntington gene and, as a result, would almost certainly develop (...) the disease.Observers interested in the social and economic implications of genetic technology realized that such genetic tests could be used by insurance companies to predict which insurance applicants were likely to become ill or even die from these diseases. (shrink)

For over four decades, knowledge that symptoms of some inherited diseases can be prevented or reduced via early detection and treatment in newborns has underpinned state-funded screening programs in most developed countries. Conditions for which newborn screening is now a recognized preventative public health initiative include phenylketonuria, congenital hypothyroidism, and, more recently, cystic fibrosis and sickle cell disorder. The use of tandem mass spectrometry to detect conditions such as amino-acidopathies and fatty-acid oxidation defects is also becoming increasingly prevalent. (...) a. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Genetic Testing and Genetic ScreeningPat Milmoe McCarrick (bio)In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (see Scope Note 17, (...) The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop "legitimate pursuits" (IV, Gaylin 1972) and whether genetic disease might come to be viewed as "transmissible" in the sense of being contagious (IV, Veatch 1974).Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992).Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that "it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting." Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983). [End Page 333]The OTA defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition. The terms genetic test, genetic assay, and genetic analysis are used interchangeably to mean the actual laboratory examination of samples." In contrast, genetic screening usually uses the same assays employed for genetic testing but is distinguished from genetic testing by its target population (I, OTA [Genetic Monitoring] 1990). The National Academy of Sciences (NAS) defines screening as the systematic search of populations for persons with latent, early, or asymptomatic disease (III, NAS 1975). Some of the literature annotated for this Scope Note appears to use the terms "testing" and "screening" interchangeably.Philip Boyle of the Hastings Center points out that the language used to describe genetic variation is important and asks what words should be used: "Defects, flaws, deleterious genes, disorders, or the more neutral conditions? Using words such as normal—and its corollary, abnormal—is likely to foster stigmatization and discrimination" (III, Genetic Grammar, Boyle 1992).Areas of focus in genetic testing include: prenatal diagnosis, newborn screening, carrier screening, forensic screening, and susceptibility screening.Prenatal diagnosis discerns whether a fetus is at risk for various identifiable genetic diseases or traits. Prenatal diagnosis is made using amniotic fluid, fetal cells, and fetal or maternal blood cells obtained during amniocentesis testing; alpha fetoprotein assays or chorionic villus sampling; or ultrasound tomography, which creates fetal images on a screen. Another method, known as fetoscopy, uses a camera on a needle inserted in the uterus to view the fetus. Since prenatal screening began in 1966 (I, U.S. President's Commission 1983), the number of metabolic defects and genetic disorders that can be diagnosed prenatally has expanded greatly. There is also discussion of requiring testing for parents who are participating in an in vitro fertilization program and are at genetic... (shrink)

Some state‐based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual‐gene sequencing illustrate both the (...) usefulness of the technology and its complexities. Here I discuss how newborn screening programs investigate cystic fibrosis and, as another example, adrenoleukodystrophy through individual gene sequencing. (shrink)

IntroductionAt present, in the UK, live lobe donation of the lung is generally considered in the context of patients with cystic fibrosis which is a life-threatening, inherited disease.1 However, if this technique is successfully developed it may be applicable to other patients with end stage lung disease. Cystic fibrosis is a disease where the major morbidity and mortality is due to pulmonary infection and respiratory failure.2 In l938 70% of patients born with CF died within one (...) year of birth, but now the average survival has improved to 32 years.1 The improved survival has been due to improved medical care, but also, and in very large measure, to the devotion of the families who have carried out time-consuming daily treatments such as chest physiotherapy, nebuliser treatment, high calorie diets etc. To these patients and their families lung transplantation brought new hope.3 The first successful transplant for CF was performed in the UK in 1985 and we now have patients alive and well more than ten years after transplantation. However, sadly, nearly 50% of patients with CF die on the transplant waiting list because of a shortage of donor organs from brain stem dead donors. This is a tragedy for the individual patient, the families and those who care for them. Is there a way forward?Can the number of organs available for transplantation be increased?Education of the public so that a relative of a brain dead individual will give permission for the organs to be used has been carried out for many years but only with a small increase in the number of available organs. “Required request” where doctors would be required, by law, to ask relatives of brain dead patients to consider transplantation and “assume consent” where consent to donation is assumed unless there is evidence to the contrary, do not have the …. (shrink)

Carson Strong's article “Cloning and Infertility” has initiated a conversation in this journal about the ethical and policy issues surrounding the question of who, if anyone, should be allowed access to human reproductive cloning technology, should somatic cell nuclear transfer ever become technically feasible and safe. Strong's position in that article is that infertile opposite sex couples for whom cloning is the last resort for having a genetically related child are the only people who should be granted access to such (...) technology, primarily because this need to have a genetically related child would give such couples respectable reasons for cloning themselves. Also, every child has a basic right to a “decent minimum opportunity for development.” Thus it would be morally wrong, other things being equal, to clone a person with cystic fibrosis or spina bifida but morally permissible to clone a nearsighted person, because nearsightedness is not sufficiently disabling to violate the child's birthright. With this caveat, he concludes that protecting reproductive freedom requires that physicians be allowed to provide cloning services only to that small subset of infertile opposite sex couples who would need it as a last resort, should human reproductive cloning ever become safe and feasible. (shrink)

The ubiquitin–proteasome system (UPS) is the major proteolytic pathway that degrades intracellular proteins in a regulated manner. Deregulation of the UPS has been implicated in the pathogenesis of many neurodegenerative disorders like Alzheimer's disease, Parkinson's diseases, Huntington disease, Prion‐like lethal disorders, in the pathogenesis of several genetic diseases including cystic fibrosis, Angelman's syndrome and Liddle syndrome and in many cancers. Multiple lines of evidence have already proved that UPS has the potential to be an exciting novel therapeutic target (...) for the treatment of these diseases. Here I review how aberrant functions of various genes have implicated UPS in many human disorders including neurodegeneration and cancers. I also discuss the finding that some proteasome inhibitors possess a therapeutic potential as drugs against many such diseases. BioEssays 30:1172–1184, 2008. © 2008 Wiley Periodicals, Inc. (shrink)

Common monogenic genetic diseases, ones that have unexpectedly high frequencies in certain populations, have attracted a great number of conflicting evolutionary explanations. This paper will attempt to explain the mystery of why two particularly extensively studied common genetic diseases, Tay Sachs disease and cystic fibrosis, remain evolutionary mysteries despite decades of research. I review the most commonly cited evolutionary processes used to explain common genetic diseases: reproductive compensation, random genetic drift (in the context of founder effect), and especially (...) heterozygote advantage. The latter process has drawn a particularly large amount of attention, having so successfully explained the elevated frequency of sickle cell anemia in malaria-endemic areas. However, the empirical evidence for heterozygote advantage in other common genetic diseases is quite weak. I introduce and illustrate the significance of a hierarchy of genetic disease phenomena found within the genetic disease explanations, which include the phenomena: single mutation variants of a common genetic disease, single genetic diseases, and classes of diseases with related phenotypic effects. I demonstrate that some of the confusion over the explanations of common genetic diseases can be traced back to confusions over which phenomena are being explained. I proceed to briefly evaluate the existing evidence for two common human genetic diseases: Tay Sachs disease and cystic fibrosis. The above considerations will ultimately shed light on why these diseases’ evolutionary explanations remain so deeply unresolved after so such a great volume of research. (shrink)

Most of us want to have children. We want them to be healthy and have a good start in life. One way to achieve this goal is to use preimplantation genetic diagnosis . PGD enables people engaged in the process of in vitro fertilisation to acquire information about the genetic constitution of an early embryo. On the basis of this information, a decision can be made to transfer embryos without genetic defects to the uterus and terminate those with genetic defects.1However, (...) is it morally acceptable to use PGD to reduce the probability of children with severe genetic diseases being born? Is the current routine use of PGD in public healthcare services to select against severe genetic diseases like anencephaly, spina bifida, cystic fibrosis and Down’s syndrome morally acceptable?These are complex questions involving a range of difficult ethical issues—for instance, critical discussions about the morality of embryo research and embryo termination.2 They also involve awkward conceptual issues concerning such matters as the meaning of words such as “disability”3 and “severe” in “severe genetic diseases”,4 which will not be discussed here.In this paper I examine an argument which aims to show that efforts to prevent the birth of severely disabled children using PGD are morally unacceptable. Essentially, this argument appeals to our concern for disabled people and the belief that PGD, through a slippery slope process, will have bad consequences for them. I conclude that the argument is problematic for a number of reasons. But before I examine the argument itself, it will be helpful to separate two types of slippery slope argument since these involve different kinds of reasoning.TWO TYPES OF ARGUMENTMany of the arguments against PGD point to the bad consequences it can be expected to have for disabled people. Central to all these …. (shrink)

Chloride channels are probably found in every cell, from bacteria to mammals. Their physiological tasks range from cell volume regulation to stabilization of the membrane potential, signal transduction, transepithelial transport and acidification of intracellular organelles. These different functions require the presence of many distinct chloride channels, which are differentially expressed and regulated by various stimuli. These include various intracellular messengers (like calcium and cyclic AMP), pH, extracellular ligands and transmembrane voltage. Three major structural classes of chloride channels are known to (...) date, but there may be others not yet identified. After an overview of the general functions of chloride channels, this review will focus on these cloned chloride channels: the CLC chloride channel family, which includes voltage‐gated chloride channels, and the cystic fibrosis transmembrane regulator (CFTR), which performs other functions in addition to being a chloride channel. Finally, a short section deals with GABA and glycine receptors. Diseases resulting from chloride channel defects will be specially emphasized, together with the somewhat limited information about how these proteins work at the molecular level. (shrink)

Historically, the practice of medicine has been a physically intimate endeavor. Physicians have used their hands to palpate and reveal the secrets hidden within the body. Smelling the breath for the ketosis of diabetes or tasting the skin for the saltiness of cystic fibrosis were among the physician's essential practices. Today, perhaps the most defining characteristic of a brilliant clinician is the ability to synthesize many images—from electrocardiograms, ultrasounds, CT scans, and so forth—into a coherent picture that can (...) guide our diagnosis and treatment. Yet this is rapidly becoming a Sisyphean task. Just as we are about to drown in a deluge of data, AI is throwing us a life preserver, to save not only our patients but ourselves. But where will AI take us? (shrink)

The main value of carrier detection in the general population is to determine reproductive risks. In this manuscript I examine the practice of providing carrier screening programs in the school setting. While the data show that high school screening programs can achieve high uptake, I argue that this may reflect a lack of full understanding about risks, benefits, and alternatives, and the right not to know. It may also reflect the inherent coercion in group testing, particularly for adolescents who are (...) prone to peer pressure. The problem of carrier screening in the schools is compounded when the condition has a predilection for certain groups based on race, ethnicity or religion. I examine programs around the world that seek to test high school students for Tay Sachs and Cystic Fibrosis carrier status. I argue that carrier programs should be designed so as to minimize stigma and to allow individuals to refuse. The mandatory school environment cannot achieve this. Rather, I conclude that screening programs should be designed to attract young adults and not adolescents to participate in a more voluntary venue. (shrink)

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 applies to individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like (...) Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer. (shrink)

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 applies to individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like (...) Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer. (shrink)

This study explored the evidence of validity of internal structure of the 12-item Functional Assessment of Chronic Illness Therapy—Spiritual Wellbeing Scale in Brazilian adolescents with chronic health conditions. The study involved 301 Brazilian adolescents with cancer, type 1 diabetes mellitus, or cystic fibrosis. Exploratory Factor Analysis, Confirmatory Factor Analysis, and Item Response Theory were used to test the internal structure. Reliability was determined with Cronbach’s Alpha and McDonald’s Omega. The EFA suggested a one-dimensional scale structure in contrast to (...) the original 2-factor model or the 3-factor model which were not reproduced in the current CFA. All quality indicators for the EFA one-factor exceeded the required criteria. The FACIT-Sp-12 for adolescents yielded strong evidence for a 1-factor model and with good reliability. (shrink)

In August 2005, the United Kingdom's Human Fertilisation & Embryology Authority launched a public consultation, seeking views on the use of preimplantation genetic diagnosis for the detection of cancer genes. The issue was considered by the Authority to be a possible source of particular controversy because it involved extending the range of conditions for which PGD can be licensed in a potentially important way: As well as testing for genes that would definitely cause disease traits, such as cystic (...) class='Hi'>fibrosis and muscular dystrophy, this would involve genes that would only possibly manifest themselves phenotypically. In other words, there is a very real chance that such an application of PGD would result in the destruction of perfectly healthy embryos. (shrink)

Newborn screening for genetic diseases has developed rapidly in Western countries. These biopolitics raise the question of birth as a sociological “knot” insofar as it is the threshold between the child and the fetus. The question therefore addressed in this text, based on a field study of newborn screening for cystic fibrosis in France, is that of the link between the quest for good health and the elimination of poor health. Do they reinforce each other or, on the (...) contrary, are they contradictory? I analyze the positions of both mothers of screened children and clinicians regarding the following three points: prenatal diagnosis to preclude sets of sick siblings, identification of heterozygous individuals, and generalized prenatal screening. This study shows how increasingly attentive patient care and an increasingly demanding approach to prenatal diagnosis reinforce one another. It also analyzes the role of taking action early on and evaluating the lives of sick or disabled people in this process. In conclusion, I engage a more general discussion about what I suggest calling a “quality life.”. (shrink)

An important aspect of any meaningful public discussion about developments in gene technology is the provision of opportunities for interested publics to engage in sociable public discourse with other lay people and with experts. This article reports on a series of peer group conversations conducted in late 1996 and early 1997 with sixteen community groups in Perth, Western Australia, interested in gene therapy technology. With the case of cystic fibrosis as a particular focus, and using background resource material (...) as a stimulus for discussion, the participating groups explored a range of value issues arising from the new genetic medicine. This more discursive context enabled participants to express a number of background or life-world concerns about genetic medicine, concerns that are often obscured by the dominant biomedical and bioethical discourses. (shrink)

Modern medicine emphasizes treatment of the sick. It is often said that the widespread genetic testing soon to follow the completion of the Human Genome Project will usher in a new era of preventive medicine. Such changes require new ways of thinking, however. For example, there may be nothing clinically wrong with a healthy patient who requests genetic testing, even if the tests reveal disease genes. Since all individuals have genetic skeletons in their closets, it is important to be careful (...) not to confuse having disease genes with having the diseases that they cause. Unfortunately, many in the public have adopted a kind of genetic determinism that sees genes as destiny: for example, having the gene associated with colon cancer means they will develop colon cancer. Physicians tend to be more careful, yet even they are not immune to subtle versions of genetic determinism. One example of this is the uncritical categorization of certain diseases as “genetic”. In fact, an adequate concept of genetic disease is extremely difficult to come by. The simplest notion would require a 1:1 correspondence between a disease and its genes, but this is the exception rather than the rule. For example, cystic fibrosis (CF) is often put forward as a good example of a genetic disease, since it seems to result from mutations in a single gene, CFTR. Even in this case, however, the exact relationship between CFTR mutations and disease is not clear, as virtually every possible combination of sweat chloride test results, genetic test results, and symptoms has been observed.[1] If a patient presents with the classic symptoms of CF and is found to have a mutation in the CFTR gene, the physician might understandably infer that the mutation caused the disease. But if an asymptomatic patient is tested and it is discovered that he or she has a CFTR mutation, it is unclear what this means. The doctor might tell the patient the gene is abnormal and that he or she is likely to develop pulmonary problems, etc., but it’s not really known whether even this qualified prognosis is true.. (shrink)

Mallory Smith’s posthumously published book, Salt in My Soul: An Unfinished Life, is an insightful and moving account of one young woman’s experience living with a chronic, often invisible, illness.1 Mallory was diagnosed with cystic fibrosis (CF) at age three and began writing in a journal when she was 15. According to those close to her, Mallory wrote consistently over the span of 10 years, until shortly before she died at age 25 from complications related to a double (...) lung transplant. Much of what Mallory included in her journal was too difficult for her to share with family and friends while she was alive, yet she hoped that her writing would one day “offer insight for people living with, or loving someone with, chronic illness.” (page x) As Mallory explained, “I want to create a piece so moving that people are in disbelief. And I want it to be like handing people a pair of glasses, giving them a way of seeing something they didn’t even realize they weren’t seeing.” (page 291) Shortly before Mallory died, she shared the password to her 2,500-page journal with her mother, along with instructions for how to select excerpts for what would become Salt in My Soul. (shrink)

A adolescência é um período do desenvolvimento acompanhado de importantes mudanças na esfera física, psicológica e social, caracterizando-se como um momento de transição para a vida adulta. A presente pesquisa investigou algumas repercussões que uma doença crônica como a fibrose cística possui dentr..

Rationale One's understanding of medical progress – what it is, how it is pursued and how it is assessed – may be deeply dependent on one's understanding of the metaphysics of medicine, and of diseases in particular. -/- Aims and Objectives In this paper I present a new account of the nature of diseases, neither realist nor constructivist, and describe what progress in medicine looks like if we understand diseases in this way. -/- Conclusions This new account, Constructive Realism, may (...) provide a better account of medicine than either realism or constructivism. (shrink)