Redefining disease? The nosologic implications of molecular genetic knowledge.

Abstract:

:How will developments in genetic knowledge affect the classification of disease? Leaders in genetics have suggested that knowledge of the role of genes in disease can determine nosology. Diseases might be defined by genotype, thus avoiding the limitations of more empirical approaches to categorization. Other commentators caution against disease definitions that are detached from the look and feel of disease, and argue for an interplay between genotypic and phenotypic information. Still others attribute nosologic change to social processes. We draw on an analysis of the scientific literature, our conversations with genetics clinicians, and reviews of patient organization Web sites to offer a revised interpretation of the nosologic implications of molecular genetic knowledge. We review the recent histories of three diseases--hemophilia, Rett syndrome, and cystic fibrosis--to argue that nosologic change cannot be explained by either biologic theories of disease etiology or sociologic theories of social tendencies. Although new genetic information challenges disease classifications and is highly influential in their redesign, genetic information can be used in diverse ways to reconstruct disease categories and is not the only influence in these revisions. Ironically, genetic information is likely to play a central role in producing a new, but still empirical, classification scheme.

journal_name

Perspect Biol Med

authors

Miller FA,Begbie ME,Giacomini M,Ahern C,Harvey EA

doi

10.1353/pbm.2006.0012

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

99-114

issue

1

eissn

0031-5982

issn

1529-8795

pii

S152987950610099X

journal_volume

49

pub_type

杂志文章
  • Birth Narratives, Babies, and the Catholic Moral Imagination: Informing Influences on the Pope's Address.

    abstract::This commentary considers two informing influences on Pope Francis's support of perinatal hospice care for families facing diagnoses of serious fetal anomalies. Reflecting on the morally formative scriptural narrative of Mary's pregnancy and Jesus's birth and drawing upon an often-repeated idea of Pope Francis's papac...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2020.0044

    authors: Hardt J

    更新日期:2020-01-01 00:00:00

  • Telling stories about illness and disability: the limits and lessons of narrative.

    abstract::Autobiographical narratives of illness and disability are influential in popular and medical discourses of illness and disability, in part because these narratives represent illness and disability within a sociocultural context, intersecting with other categories of difference. Clinicians can benefit patients through ...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.0.0135

    authors: Garden R

    更新日期:2010-01-01 00:00:00

  • When ethics precludes randomization: put prospective, matched-pair observational studies to work.

    abstract::Randomized, controlled clinical trials (RCTs) may be possible, permissible, and practical in certain circumstances, but ethical or practical considerations often preclude their utilization. In many such cases, ethical objections will not apply to a similarly oriented, prospective, matched-pair observational study. Add...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2013.0014

    authors: Kowalski CJ

    更新日期:2013-04-01 00:00:00

  • Exemplary and surrogate models: two modes of representation in biology.

    abstract::Biologists use models in two distinct ways that have not been clearly articulated. A model may be used either as an exemplar of a larger group, or as a surrogate for a specific target. Zebrafish serve as an exemplary model of vertebrates in developmental biology; rodents are both exemplary vertebrates and specific sur...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.0.0125

    authors: Bolker JA

    更新日期:2009-10-01 00:00:00

  • The Role of Physicians During Hunger Strikes of Undocumented Migrant Workers in a Non-Custodial Setting.

    abstract::Since the beginning of the 21st century, the living conditions of undocumented migrant workers in Belgium have deteriorated drastically. In Brussels, after various social actions, undocumented people began squatting and occupying public buildings to make their struggle visible to society. Desperate, some seized the po...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2019.0006

    authors: Vanobberghen R,Louckx F,Depoorter AM,Devroey D,Vandevoorde J

    更新日期:2019-01-01 00:00:00

  • 200 Years After Frankenstein.

    abstract::Mary Shelley's Frankenstein is 200 years old and remains relevant to 21st-century scientific experimentation. Molecular biologists today have become especially bold in their attempts to cure diseases while remaining mindful of the real dangers of their research. Scientists presumably share an abiding concern about pro...

    journal_title:Perspectives in biology and medicine

    pub_type: 历史文章,杂志文章

    doi:10.1353/pbm.2018.0054

    authors: Nowlin C

    更新日期:2018-01-01 00:00:00

  • Putting concerns about nature in context: the case of agricultural biotechnology.

    abstract::Concerns about nature are playing increasingly prominent roles in a variety of social debates, including medical biotechnology, environmental protection, and agricultural biotechnology. These concerns are often simply rejected as incoherent: critics argue that there is no good account for how natural states of affairs...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2007.0049

    authors: Kaebnick GE

    更新日期:2007-10-01 00:00:00

  • Diagnosis and Metaphor.

    abstract::Human beings rely on metaphor as a primary cognitive device for interpreting the world around them. Metaphors figure especially strongly in discourse around health, illness, and medicine. It is not just that patients use metaphors to describe their personal experience of being unwell, or that medical professionals emp...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2015.0010

    authors: Hanne M

    更新日期:2015-01-01 00:00:00

  • Haunted Doctors.

    abstract::The idea of being "haunted" appears often in accounts of the experience of health-care professionals and trainees who suffer from unresolved sorrow or regret about past clinical events, in particular the deaths of patients. The trope of haunting draws a direct line between past professional trauma and the dread of fut...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2020.0034

    authors: Belling C

    更新日期:2020-01-01 00:00:00

  • Parasites and progress: ethical decision-making and the Santee-Cooper Malaria study, 1944-1949.

    abstract::As part of a mid-1940s malaria research program, U.S. Public Health Service researchers working in South Carolina chose to withhold treatment from a group of subjects while testing the efficacy of a new insecticide. Research during World War II had generated new tools to fight malaria, including the insecticide DDT an...

    journal_title:Perspectives in biology and medicine

    pub_type: 历史文章,杂志文章

    doi:10.1353/pbm.2008.0011

    authors: Slater L,Humphreys M

    更新日期:2008-01-01 00:00:00

  • Notions of heredity in the correspondence of Edwin Grant Conklin.

    abstract::This article examines five letters from the correspondence of American zoologist Edwin Grant Conklin that highlight his theories of genetic and social inheritance, in order to suggest that Conklin's eugenic beliefs--like those of many American authorities during this time--were complex and sometimes contradictory. The...

    journal_title:Perspectives in biology and medicine

    pub_type: 传,历史文章,杂志文章

    doi:10.1353/pbm.2001.0058

    authors: Reumann M,Fausto-Sterling A

    更新日期:2001-07-01 00:00:00

  • Creating difficulties everywhere.

    abstract::In this essay we link the rationale for the medical humanities with radical hermeneutics, a move that infuses the medical humanities with incredulity and suspicion. This orientation is particularly important at this historical moment, when the evidence-based and competency blanket is threatening to overpower all aspec...

    journal_title:Perspectives in biology and medicine

    pub_type: 历史文章,杂志文章

    doi:10.1353/pbm.2007.0040

    authors: Wear D,Aultman JM

    更新日期:2007-07-01 00:00:00

  • The living dead: fiction, horror, and bioethics.

    abstract::Popular fiction responds to, and may exacerbate, public anxieties in ways that more highbrow literary texts may not. Robin Cook's 1977 novel Coma exemplifies the ways in which medical thrillers participate in the public discourse about health care. Written shortly after the medical establishment promoted "irreversible...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.0.0168

    authors: Belling C

    更新日期:2010-07-01 00:00:00

  • A Less Perfect Union.

    abstract::This is a daunting time, not only in terms of our public health and our economic health but also in terms of the health of the republic. It is an old theme that any form of popular government needs virtuous citizens if it is to survive. It also needs citizens to agree on what counts as a virtue. I fear that the pandem...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2020.0050

    authors: Brudney D

    更新日期:2020-01-01 00:00:00

  • A new curriculum to link the basic science of aging with geriatric practice.

    abstract::There is a growing national awareness that the extraordinary extension of life expectancy in our society poses an impending crisis for our health-care system. This is due in large part to the scarcity of primary-care providers, especially geriatricians. To address these concerns, the Obama administration has considere...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.0.0092

    authors: Hamerman D

    更新日期:2009-07-01 00:00:00

  • Head-counting vs. heart-counting: an examination of the recent case of the conjoined twins from Malta.

    abstract::This paper reexamines the recent case of the conjoined twins from Malta. Survival was said to be possible only through separation, which would actually leave only one twin alive. The parents refused to allow the killing of one to save the other, but the court ruled that this would amount to the neglect of innocent lif...

    journal_title:Perspectives in biology and medicine

    pub_type: 历史文章,杂志文章

    doi:10.1353/pbm.2002.0063

    authors: Barilan YM

    更新日期:2002-10-01 00:00:00

  • The hitchhiker's guide to global health blogging.

    abstract::Social media use in modern medicine is fraught with ethical dilemmas and risks of unprofessional behavior. This essay surveys the existing literature on the possibilities and pitfalls of social media use by health-care professionals and concludes that non-engagement with social media is not an option. A mindful approa...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2013.0039

    authors: Frischtak H,Sinha P

    更新日期:2013-10-01 00:00:00

  • Clinical Germline Genome Editing: When Will Good be Good Enough?

    abstract::Ensuring experimental outcomes are of the highest clinical caliber is crucial prior to the introduction of germline genome editing. However, if we are to police scientific progress using probability or the potential to go wrong, then we must account for the specious standards of human reproduction. With 15% of clinica...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2020.0008

    authors: O'Neill HC

    更新日期:2020-01-01 00:00:00

  • Charles Dickens and the movement for sanitary reform.

    abstract::Charles Dickens's adult life parallels the period when the movement for sanitary reform took root in England. Although he was not one of its leaders, he became in time one of its most outspoken advocates. This essay describes Dickens's growing involvement in the sanitary movement and looks at one of the most important...

    journal_title:Perspectives in biology and medicine

    pub_type: 传,历史文章,杂志文章

    doi:10.1353/pbm.2003.0025

    authors: Litsios S

    更新日期:2003-04-01 00:00:00

  • Formulating a curriculum on aging and health for university undergraduates.

    abstract::There is a need in our society to raise the national consciousness about aging, health, and the prospects for longevity, so that many more persons take responsibility for their personal health and understand what we will need in an era of health-care reform to promote health across the life course. We address this imp...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2013.0021

    authors: Hamerman D,Fried LP

    更新日期:2013-04-01 00:00:00

  • Determination of Death: A Discussion on Responsible Scholarship, Clinical Practices, and Public Engagement.

    abstract::The concept and determination of death by neurological or cardio-circulatory criteria play a crucial role for medical practice, society, and the law. Academic debates on death determination have regained momentum, and recent cases involving the neurological determination of death ("brain death") in the United States h...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2015.0036

    authors: Racine E,Jox RJ,Bernat JL,Dabrock P,Gardiner D,Marckmann G,Rid A,Rodriguez-Arias D,Schmitten RI,Schöne-Seifert B

    更新日期:2015-01-01 00:00:00

  • The body, its emotions, the self, and consciousness.

    abstract::This article proposes a means for better understanding the self and consciousness. Data indicate that the basic "emotional brain" continually computes potential survival risk against reward to rank consequent "emotion scores" for all sensory inputs. These scores compete to yield winner-takes-all outcomes that determin...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2012.0031

    authors: Boyd GW

    更新日期:2012-07-01 00:00:00

  • Is the Pace of Biomedical Innovation Slowing?

    abstract::The pace of biomedical innovation is important because it determines the rate of progress in medicine and allied disciplines. A review of the history of medical advances reveals that the three decades from 1950 to 1980 were a particularly innovative time. Subsequent decades have seen fewer seminal advances, despite co...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2018.0067

    authors: Casadevall A

    更新日期:2018-01-01 00:00:00

  • Dean Milton C. Winternitz at Yale.

    abstract::Milton Winternitz led Yale Medical School as its Dean from 1920 to 1935. An innovative, even maverick leader, he not only kept the school from going under, but turned it into a first-class research institution. Dedicated to the new scientific medicine established in Germany, he was equally fervent about "social medici...

    journal_title:Perspectives in biology and medicine

    pub_type: 传,历史文章,杂志文章

    doi:10.1353/pbm.2003.0046

    authors: Spiro H,Norton PW

    更新日期:2003-07-01 00:00:00

  • A natural history of "agonist".

    abstract::This paper constructs a brief history of the biochemical term agonist by exploring the multiple meanings of the root agôn in ancient Greek literature and describing how agonist first appeared in the scientific literature of the 20th century in the context of neurophysiologists' debates about the existence and properti...

    journal_title:Perspectives in biology and medicine

    pub_type: 历史文章,杂志文章

    doi:10.1353/pbm.2002.0056

    authors: Russo R

    更新日期:2002-07-01 00:00:00

  • Perspectives on brain tumor formation involving macrophages, glia, and neural stem cells.

    abstract::The incidence of brain tumors is rising in children and the elderly, but little is known about the mechanisms underlying brain tumor initiation and progression. In the 1940s, Zimmerman and coworkers exploited the tumor-promoting potential of polycyclic hydrocarbons to produce brain tumor models in adult mice that simu...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2001.0035

    authors: Seyfried TN

    更新日期:2001-04-01 00:00:00

  • "He knows that machine is his mortality": old and new social and cultural patterns in the clinical trial of the AbioCor artificial heart.

    abstract::The clinical trial of the AbioCor artificial heart, initiated in July 2001 and still in process, has taken place within a matrix of social and cultural patterns that are both "old" and new. The old patterns--those that have accompanied previous clinical trials of other vital artificial organs and transplantation in th...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2004.0006

    authors: Fox RC,Swazey JP

    更新日期:2004-01-01 00:00:00

  • The Belmont Report and Innovative Clinical Research.

    abstract::A central pillar of the Belmont Report is that a bright line must be drawn between medical practice and biomedical research. That line may have been brighter 50 years ago. Today, the typical physician is likely to work for a corporation or health system that styles itself as a learning health system. Such systems incr...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2020.0026

    authors: Lantos JD

    更新日期:2020-01-01 00:00:00

  • Alternatives to War Within Medicine: From Conscientious Objection to Nonviolent Conflict About Contested Medical Practices.

    abstract::When we figure medical practice as warfare, an individual clinician may be either a dutiful combatant or a conscientious objector. The rhetorical structure of this choice means that clinicians may exercise their consciences by loyally joining or disloyally exiting the medical ranks' battle against disease. But there a...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2019.0025

    authors: Nussbaum AM

    更新日期:2019-01-01 00:00:00

  • The Need for Beneficence and Prudence in Clinical Innovation with Autologous Stem Cells.

    abstract::The term innovation is frequently used as a justification for allowing clinicians to offer unproven autologous stem cell-based interventions (SCBIs) to their patients. Proponents of this kind of innovation (which we refer to as "clinical innovation") argue that physicians should be free to administer whatever interven...

    journal_title:Perspectives in biology and medicine

    pub_type: 杂志文章

    doi:10.1353/pbm.2018.0029

    authors: Lipworth W,Stewart C,Kerridge I

    更新日期:2018-01-01 00:00:00