Personal genome testing: test characteristics to clarify the discourse on ethical, legal and societal issues.

Abstract:

BACKGROUND:As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics. DISCUSSION:This paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.' SUMMARY:Consideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility.

journal_name

BMC Med Ethics

journal_title

BMC medical ethics

authors

Bunnik EM,Schermer MH,Janssens AC

doi

10.1186/1472-6939-12-11

subject

Has Abstract

pub_date

2011-06-14 00:00:00

pages

11

issn

1472-6939

pii

1472-6939-12-11

journal_volume

12

pub_type

杂志文章,评审
  • Voluntary participation and comprehension of informed consent in a genetic epidemiological study of breast cancer in Nigeria.

    abstract:BACKGROUND:Studies on informed consent to medical research conducted in low or middle-income settings have increased, including empirical investigations of consent to genetic research. We investigated voluntary participation and comprehension of informed consent among women involved in a genetic epidemiological study o...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-15-38

    authors: Marshall PA,Adebamowo CA,Adeyemo AA,Ogundiran TO,Strenski T,Zhou J,Rotimi CN

    更新日期:2014-05-13 00:00:00

  • Ethics of health research with prisoners in Canada.

    abstract:BACKGROUND:Despite the growing recognition for the need to improve the health of prisoners in Canada and the need for health research, there has been little discussion of the ethical issues with regards to health research with prisoners in Canada. The purpose of this paper is to encourage a national conversation about ...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-017-0189-6

    authors: Silva DS,Matheson FI,Lavery JV

    更新日期:2017-04-27 00:00:00

  • International variation in ethics committee requirements: comparisons across five Westernised nations.

    abstract:BACKGROUND:Ethics committees typically apply the common principles of autonomy, nonmaleficence, beneficence and justice to research proposals but with variable weighting and interpretation. This paper reports a comparison of ethical requirements in an international cross-cultural study and discusses their implications....

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-3-2

    authors: Goodyear-Smith F,Lobb B,Davies G,Nachson I,Seelau SM

    更新日期:2002-04-19 00:00:00

  • Ethical oversight in quality improvement and quality improvement research: new approaches to promote a learning health care system.

    abstract:BACKGROUND:Institutional review boards (IRBs) distinguish health care quality improvement (QI) and health care quality improvement research (QIR) based primarily on the rigor of the methods used and the purported generalizability of the knowledge gained. Neither of these criteria holds up upon scrutiny. Rather, this ap...

    journal_title:BMC medical ethics

    pub_type: 杂志文章,评审

    doi:10.1186/s12910-015-0056-2

    authors: Fiscella K,Tobin JN,Carroll JK,He H,Ogedegbe G

    更新日期:2015-09-17 00:00:00

  • How participatory is parental consent in low literacy rural settings in low income countries? Lessons learned from a community based study of infants in South India.

    abstract:BACKGROUND:A requisite for ethical human subjects research is that participation should be informed and voluntary. Participation during the informed consent process by way of asking questions is an indicator of the extent to which consent is informed. AIMS:The aims of this study were to assess the extent to which pare...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-12-3

    authors: Rajaraman D,Jesuraj N,Geiter L,Bennett S,Grewal HM,Vaz M,TB Trials Study Group.

    更新日期:2011-02-15 00:00:00

  • Culture and personal influences on cardiopulmonary resuscitation- results of international survey.

    abstract:BACKGROUND:The ethical principle of justice demands that resources be distributed equally and based on evidence. Guidelines regarding forgoing of CPR are unavailable and there is large variance in the reported rates of attempted CPR in in-hospital cardiac arrest. The main objective of this work was to study whether loc...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-019-0439-x

    authors: Ozer J,Alon G,Leykin D,Varon J,Aharonson-Daniel L,Einav S

    更新日期:2019-12-26 00:00:00

  • The relationship between the perception of open disclosure of patient safety incidents, perception of patient safety culture, and ethical awareness in nurses.

    abstract:BACKGROUND:Scientific advances have resulted in more complex medical systems, which in turn have led to an increase in the number of patient safety incidents (PSIs). In this environment, the importance of honest disclosure of PSIs is rising, which highlight the need to settle a reliable system. This study aimed to inve...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-020-00546-7

    authors: Kim Y,Lee E

    更新日期:2020-10-27 00:00:00

  • Public appraisal of government efforts and participation intent in medico-ethical policymaking in Japan: a large scale national survey concerning brain death and organ transplant.

    abstract:BACKGROUND:Public satisfaction with policy process influences the legitimacy and acceptance of policies, and conditions the future political process, especially when contending ethical value judgments are involved. On the other hand, public involvement is required if effective policy is to be developed and accepted. M...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-6-1

    authors: Sato H,Akabayashi A,Kai I

    更新日期:2005-01-20 00:00:00

  • "Media, politics and science policy: MS and evidence from the CCSVI Trenches".

    abstract:BACKGROUND:In 2009, Dr. Paolo Zamboni proposed chronic cerebrospinal venous insufficiency (CCSVI) as a possible cause of multiple sclerosis (MS). Although his theory and the associated treatment ("liberation therapy") received little more than passing interest in the international scientific and medical communities, hi...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-14-6

    authors: Pullman D,Zarzeczny A,Picard A

    更新日期:2013-02-12 00:00:00

  • "Losing the tombola": a case study describing the use of community consultation in designing the study protocol for a randomised controlled trial of a mental health intervention in two conflict-affected regions.

    abstract:BACKGROUND:Community consultation is increasingly recommended, and in some cases, required by ethical review boards for research that involves higher levels of ethical risk such as international research and research with vulnerable populations. In designing a randomised control trial of a mental health intervention us...

    journal_title:BMC medical ethics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12910-015-0032-x

    authors: Shanks L,Moroni C,Rivera IC,Price D,Clementine SB,Pintaldi G

    更新日期:2015-06-02 00:00:00

  • Will my patients get their residence permit? A critical analysis of the ethical dilemmas involved in writing medical certificates for residence permits in France.

    abstract:BACKGROUND:France has long been a country of immigration and in some respects may be seen to have a generous policy with respect to asylum seekers and access to health care for migrants. The French state notably provides healthcare access for undocumented migrants, through state medical aid and since 1998 has had a hum...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-020-00500-7

    authors: Cailhol J,Lebon MC,Sherlaw W

    更新日期:2020-07-13 00:00:00

  • Seeking consent for research with indigenous communities: a systematic review.

    abstract:BACKGROUND:When conducting research with Indigenous populations consent should be sought from both individual participants and the local community. We aimed to search and summarise the literature about methods for seeking consent for research with Indigenous populations. METHODS:A systematic literature search was cond...

    journal_title:BMC medical ethics

    pub_type: 杂志文章,评审

    doi:10.1186/s12910-016-0139-8

    authors: Fitzpatrick EF,Martiniuk AL,D'Antoine H,Oscar J,Carter M,Elliott EJ

    更新日期:2016-10-22 00:00:00

  • Complexity of consenting for medical termination of pregnancy: prospective and longitudinal study in Paris.

    abstract:BACKGROUND:We analyzed the patients' perception of prenatal diagnosis of fetal cardiac pathology, and the reasons for choosing to continue with pregnancy despite being eligible to receive a medical termination of pregnancy. We also identified the challenges, the motives interfering in decision-making, and the consequen...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-018-0270-9

    authors: Abi Tayeh G,Jouannic JM,Mansour F,Kesrouani A,Attieh E

    更新日期:2018-05-02 00:00:00

  • A biobank management model applicable to biomedical research.

    abstract:BACKGROUND:The work of Research Ethics Boards (REBs), especially when involving genetics research and biobanks, has become more challenging with the growth of biotechnology and biomedical research. Some REBs have even rejected research projects where the use of a biobank with coded samples was an integral part of the s...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-7-4

    authors: Auray-Blais C,Patenaude J

    更新日期:2006-04-06 00:00:00

  • Differences and structural weaknesses of institutional mechanisms for health research ethics: Burkina Faso, Palestine, Peru, and Democratic Republic of the Congo.

    abstract:BACKGROUND:Regardless of national contexts, the institutions responsible for research ethics, founded on international regulations, are all expected to be structured and to operate in a common way. Our experience with several countries on different continents, however, has raised questions in this regard. This article ...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-018-0284-3

    authors: Sambiéni NE

    更新日期:2018-06-15 00:00:00

  • Leadership in palliative medicine: moral, ethical and educational.

    abstract:BACKGROUND:Making particular use of Shale's analysis, this paper discusses the notion of leadership in the context of palliative medicine. Whilst offering a critical perspective, I build on the philosophy of palliative care offered by Randall and Downie and suggest that the normative structure of this medical specialit...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-018-0296-z

    authors: Emmerich N

    更新日期:2018-06-05 00:00:00

  • Lessons learned from implementing a responsive quality assessment of clinical ethics support.

    abstract:BACKGROUND:Various forms of Clinical Ethics Support (CES) have been developed in health care organizations. Over the past years, increasing attention has been paid to the question of how to foster the quality of ethics support. In the Netherlands, a CES quality assessment project based on a responsive evaluation design...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-019-0418-2

    authors: Van Baarle EM,Potma MC,van Hoek MEC,Hartman LA,Molewijk BAC,van Gurp JLP

    更新日期:2019-11-01 00:00:00

  • Generating genius: how an Alzheimer's drug became considered a 'cognitive enhancer' for healthy individuals.

    abstract:BACKGROUND:Donepezil, an acetylcholinesterase inhibitor used in the treatment of Alzheimer's disease, has been widely cited in media and bioethics literature on cognitive enhancement (CE) as having the potential to improve the cognitive ability of healthy individuals. In both literatures, this claim has been repeatedly...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-15-37

    authors: Wade L,Forlini C,Racine E

    更新日期:2014-05-12 00:00:00

  • Convergent ethical issues in HIV/AIDS, tuberculosis and malaria vaccine trials in Africa: Report from the WHO/UNAIDS African AIDS Vaccine Programme's Ethics, Law and Human Rights Collaborating Centre consultation, 10-11 February 2009, Durban, South Africa

    abstract:BACKGROUND:Africa continues to bear a disproportionate share of the global HIV/AIDS, tuberculosis (TB) and malaria burden. The development and distribution of safe, effective and affordable vaccines is critical to reduce these epidemics. However, conducting HIV/AIDS, TB, and/or malaria vaccine trials simultaneously in ...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-11-3

    authors: Mamotte N,Wassenaar D,Koen J,Essack Z

    更新日期:2010-03-09 00:00:00

  • Ethics of neuroimaging after serious brain injury.

    abstract:BACKGROUND:Patient outcome after serious brain injury is highly variable. Following a period of coma, some patients recover while others progress into a vegetative state (unresponsive wakefulness syndrome) or minimally conscious state. In both cases, assessment is difficult and misdiagnosis may be as high as 43%. Recen...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-15-41

    authors: Weijer C,Peterson A,Webster F,Graham M,Cruse D,Fernández-Espejo D,Gofton T,Gonzalez-Lara LE,Lazosky A,Naci L,Norton L,Speechley K,Young B,Owen AM

    更新日期:2014-05-20 00:00:00

  • Effect of written outcome information on attitude of perinatal healthcare professionals at the limit of viability: a randomized study.

    abstract:BACKGROUND:Differences in perception and potential disagreements between parents and professionals regarding the attitude for resuscitation at the limit of viability are common. This study evaluated in healthcare professionals whether the decision to resuscitate at the limit of viability (intensive care versus comfort ...

    journal_title:BMC medical ethics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/s12910-019-0413-7

    authors: Papadimitriou V,Tosello B,Pfister R

    更新日期:2019-10-22 00:00:00

  • Giving samples or "getting checked": measuring conflation of observational biospecimen research and clinical care in Latino communities.

    abstract:BACKGROUND:Expectations of receiving personal health information as a fringe benefit of biospecimen donation-termed diagnostic misconception-are increasingly documented. We developed an instrument measuring conflation of observational biospecimen-based research and clinical care for use with Latino communities, who may...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-015-0041-9

    authors: Knerr S,Ceballos RM

    更新日期:2015-07-17 00:00:00

  • Is informed consent related to success in exercise and diet intervention as evaluated at 12 months? DR's EXTRA study.

    abstract:BACKGROUND:There is a permanent need to evaluate and develop the ethical quality of scientific research and to widen knowledge about the effects of ethical issues. Therefore we evaluated whether informed consent is related to implementation and success in a lifestyle intervention study with older research participants....

    journal_title:BMC medical ethics

    pub_type: 杂志文章,随机对照试验

    doi:10.1186/1472-6939-11-9

    authors: Länsimies-Antikainen H,Pietilä AM,Laitinen T,Kiviniemi V,Rauramaa R

    更新日期:2010-06-08 00:00:00

  • A risk screening tool for ethical appraisal of evidence-generating initiatives.

    abstract:BACKGROUND:The boundaries between health-related research and practice have become blurred as initiatives traditionally considered to be practice (e.g., quality improvement, program evaluation) increasingly use the same methodology as research. Further, the application of different ethical requirements based on this di...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-015-0039-3

    authors: Ondrusek NK,Willison DJ,Haroun V,Bell JA,Bornbaum CC

    更新日期:2015-07-07 00:00:00

  • Dying well with reduced agency: a scoping review and thematic synthesis of the decision-making process in dementia, traumatic brain injury and frailty.

    abstract:BACKGROUND:In most Anglophone nations, policy and law increasingly foster an autonomy-based model, raising issues for large numbers of people who fail to fit the paradigm, and indicating problems in translating practical and theoretical understandings of 'good death' to policy. Three exemplar populations are frail olde...

    journal_title:BMC medical ethics

    pub_type: 杂志文章,评审

    doi:10.1186/s12910-016-0129-x

    authors: Birchley G,Jones K,Huxtable R,Dixon J,Kitzinger J,Clare L

    更新日期:2016-07-27 00:00:00

  • Patient-targeted Googling and social media: a cross-sectional study of senior medical students.

    abstract:BACKGROUND:Social media and Internet technologies present several emerging and ill-explored issues for a modern healthcare workforce. One issue is patient-targeted Googling (PTG), which involves a healthcare professional using a social networking site (SNS) or publicly available search engine to find patient informatio...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-017-0230-9

    authors: Chester AN,Walthert SE,Gallagher SJ,Anderson LC,Stitely ML

    更新日期:2017-12-04 00:00:00

  • Good health checks according to the general public; expectations and criteria: a focus group study.

    abstract:BACKGROUND:Health checks or health screenings identify (risk factors for) disease in people without a specific medical indication. So far, the perspective of (potential) health check users has remained underexposed in discussions about the ethics and regulation of health checks. METHODS:In 2017, we conducted a qualita...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-018-0301-6

    authors: Stol YH,Asscher ECA,Schermer MHN

    更新日期:2018-06-22 00:00:00

  • Documentation of best interest by intensivists: a retrospective study in an Ontario critical care unit.

    abstract:BACKGROUND:Intensive care physicians often must rely on substitute decision makers to address all dimensions of the construct of "best interest" for incapable, critically ill patients. This task involves identifying prior wishes and to facilitate the substitute decision maker's understanding of the incapable patient's ...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-11-1

    authors: Ratnapalan M,Cooper AB,Scales DC,Pinto R

    更新日期:2010-02-10 00:00:00

  • Clinical Ethics Committees in Africa: lost in the shadow of RECs/IRBs?

    abstract:BACKGROUND:Clinical Ethics Committees (CECs) are well established at healthcare institutions in resource-rich countries. However, there is limited information on established CECs in resource poor countries, especially in Africa. This study aimed to establish baseline data regarding existing formal CECs in Africa to rai...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/s12910-020-00559-2

    authors: Moodley K,Kabanda SM,Soldaat L,Kleinsmidt A,Obasa AE,Kling S

    更新日期:2020-11-18 00:00:00

  • Patients as consumers of health care in South Africa: the ethical and legal implications.

    abstract:BACKGROUND:South Africa currently has a pluralistic health care system with separate public and private sectors. It is, however, moving towards a socialised model with the introduction of National Health Insurance. The South African legislative environment has changed recently with the promulgation of the Consumer Prot...

    journal_title:BMC medical ethics

    pub_type: 杂志文章

    doi:10.1186/1472-6939-14-15

    authors: Rowe K,Moodley K

    更新日期:2013-03-21 00:00:00