Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society

Wulfsberg, Eric A.

doi:10.1001/jama.271.3.217

Cited by 17 publications

(9 citation statements)

References 42 publications

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“…Thus, similar risks are likely to be present for other tests as well, and should be included in pamphlets on genetic tests generally. Furthermore, other risks, such as inadvertent disclosure of information about relatives or parentage, or loss of health or life insurance or employment have been documented for a variety of different genetic tests [Billings et al, 1992;Wulfsberg et al, 1994]. Although the probability of such risks is not certain, they would have such an adverse impact on families if they did occur that they bear mentioning.…”

Section: Discussionmentioning

confidence: 96%

Educational material about genetic tests: Does it provide key information for patients and practitioners?

1997

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Genetic testing for common conditions will be used increasingly in primary care, but resources for patient counseling are decreasing. It is also necessary that primary care practitioners be better equipped to do basic genetic counseling. Therefore, the quality of informational materials for practitioners and patients is important. It was unknown how often key elements recommended by policy groups were actually included in such material. It was our aim to determine the content of printed informational material for practitioners and patients on genetic testing. We performed (1) a telephone survey of organizations in the United States that developed genetic tests or services and (2) a content analysis of pamphlets obtained from these organizations to determine the presence of 10 critical elements necessary to evaluate the appropriateness and performance of the tests. Almost 95% (169/178) of organizations responded to our survey; 131/169 (78%) reported using informational materials. We analyzed 115 pamphlets collected from 125/131 (95%) organizations. Elements least frequently included in the pamphlets were risks and benefits, patient rights, and intended use or purpose of the test. Most frequently included were descriptions of the conditions detected by the test, and the appropriate patients for testing. Nearly one half of the pamphlets included some statement about the accuracy of the test, but most of these did not specify whether their statements referred to sensitivity, specificity, or predictive value. Overall, pamphlets tended to contain information that would aid in determining a patient's eligibility for a genetic test, but did not contain sufficient information about the tests themselves. Our results suggest that several critical elements need to be added to enhance informed choices by patients and physicians.

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Section: Discussionmentioning

confidence: 96%

Educational material about genetic tests: Does it provide key information for patients and practitioners?

1997

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“…While often directed at improving diagnosis and therapy, these technologies also either directly or indirectly yield information with substantial and essentially prognostic significance. [13][14][15][16] Fourth, the increasing emphasis on patient autonomy in clinical care-with its implicit notion of physicians spelling out for patients various alternative courses of action and the likely results of these actions-requires physicians to generate and communicate predictions, if only to serve as an explicit predicate for patient decision making. Fifth, there is an increasing prevalence of chronic diseases.…”

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confidence: 99%

Attitude and Self-reported Practice Regarding Prognostication in a National Sample of Internists

Christakis¹,

Iwashyna²

1998

Arch Intern Med

405

303

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“…trzeba też zaznaczyć, że jak każde leczenie preparatami krwiopochodnymi, terapia ta wiąże się z trudnym do precyzyjnego oszacowania ryzykiem przenoszenia drobnoustrojów chorobotwórczych, potencjalnie zawartych i niemożliwych do wykrycia w tego typu preparatach. się ujawnienia swojej choroby firmom ubezpieczeniowym oraz pracodawcom, ze względu na ryzyko podwyższania składek zdrowotnych czy też możliwość utraty pracy [15].…”

Section: Mit 6 Istnieją Bardzo Różne Formy I Schematy Leczenia Suplemunclassified

Alpha1-antitrypsin deficiency – misconceptions about an important clinical problem

Kuca¹,

Chorostowska‐Wynimko²

2015

fmpcr

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A-przygotowanie projektu badania, B-zbieranie danych, C-analiza statystyczna, D-interpretacja danych, E-przygotowanie maszynopisu, F-opracowanie piśmiennictwa, G-pozyskanie funduszy wrodzony niedobór alfa-1 antytrypsyny (ang. alpha-1 antitrypsin deficiency, aatD) jest jednym z najczęstszych zaburzeń genetycznych, rozpoznawanym rzadko pomimo szerokiego spektrum manifestacji klinicznej (przewlekła obturacyjna choroba płuc, rozstrzenie oskrzeli, astma oskrzelowa, marskość wątroby, rak wątrobowokomórkowy, zapalenie tkanki podskórnej itd.). tymczasem od kilku lat działa w Polsce program bezpłatnych badań diagnostycznych w kierunku aatD dla chorych z przewlekłymi schorzeniami obturacyjnymi układu oddechowego, opracowano i wprowadzono do praktyki klinicznej polskie zalecenia dotyczące tego deficytu, powstał krajowy rejestr chorych. Pomimo to wśród lekarzy funkcjonuje wiele mitów na temat aatD. celem artykułu jest skonfrontowanie najczęstszych z nich z faktami i wiedzą medyczną. omówiono sześć najpowszechniejszych, które sformułowano w postaci sześciu punktów: 1) aatD jest rzadkim schorzeniem i nie istnieje w Polsce, 2) diagnostyka aatD jest skomplikowana i bardzo kosztowna, 3) ustalenie rozpoznania aatD nie ma żadnego wpływu na postępowanie z chorym, obarczonym tym zaburzeniem, 4) diagnostyka aatD może skutkować problemami psychologicznymi i stygmatyzacją genetyczną, 5) rozpoznanie aatD oznacza nieuchronny rozwój ciężkiej rozedmy w młodym wieku, 6) dysponujemy wieloma możliwościami leczenia suplementacyjnego aatD. unikanie błędnych poglądów na temat tego ważnego problemu klinicznego może pozwolić na bardziej skuteczne diagnozowanie chorych w kierunku aatD, na wychwycenie większej liczby pacjentów obarczonych tym schorzeniem oraz na odpowiednio wczesne wdrożenie adekwatnego leczenia, takiego jak walka z paleniem tytoniu lub leczenie substytucyjne aatD. Słowa kluczowe: przewlekła obturacyjna choroba płuc, niedobór α-1 antytrypsyny, diagnostyka molekularna, leczenie suplementacyjne. alpha1-antitrypsin deficiency (aatD) is a common and underdiagnosed genetic disease with a broad spectrum of clinical manifestations (chronic obstructive pulmonary disease, bronchiectases, cirrhosis, hepatoma, panniculitis etc). For 50 years our knowledge about specific augmentation therapy has been evolving and international and local standards for diagnosis of aatD were established. the goal of the present paper is to articulate certain misconceptions about the management of patients with this conditions. the authors propose six most frequent myths about aatD and offer corrective responses for general practitioners. the myths affects following problems: 1) aatD is a very rare condition, 2) the diagnosis of aatD is difficult and expensive, 3) there is no influence of aatD diagnosis for clinical management of the patients, 4) the diagnosis of aatD may cause some psychological problems, 5) aatD means severe emphysema in young adults only, 6) there are many forms of augmentation therapy for aatD patients. avoiding misunderstanding about aatD is i...

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Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society

Cited by 17 publications

References 42 publications

Educational material about genetic tests: Does it provide key information for patients and practitioners?

Educational material about genetic tests: Does it provide key information for patients and practitioners?

Attitude and Self-reported Practice Regarding Prognostication in a National Sample of Internists

Alpha1-antitrypsin deficiency – misconceptions about an important clinical problem

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