Alzheimer Testing at Silver Years

Journal of the American Geriatrics Society, 1994

This article considers the emerging research on Alzheimer disease (AD) genetics in relation to ethical questions surrounding presymptomatic and prenatal genetic testing. Given the rapid advance in AD genetics over the past 8 years, it is likely that the attention of clinicians and ethicists will increasingly turn to genetic issues. After a survey of current genetic knowledge, this article addresses 3 areas of likely ethical concern. While AD genetic screening programs are currently rare and restricted to specific pedigrees, they will become more common in the future. It is, therefore, imperative that society and clinicians begin to consider the ethical issues this raises.

Annals of the New York Academy of Sciences, 1996

The most pressing ethical problem with regard to APOE genotyping regards premature introduction into the clinical context. This problem of jumping the gun can only be comprehensively considered in the light of cultural, social, and medical-economic undercurrents. Other important problem areas, to be addressed more briefly, include confidentiality, justice in access to genetic testing, and testing guidelines. But these areas are nevertheless secondary to the controversy over premature introduction. "The Program on the Ethical. Legal. and Social Implications (ELSI) of Human Genome Research, National Center for Human Genome Research, US. Department of Health and Human Services, National Institutes of Health. is gratefully acknowledged for supporting my work on ethics, genetics. and Al~heimer's disease (ROI HGO1092-01Al).

Genetics in …, 2011

The practice guidelines of the National Society of Genetic Counselors (NSGC) and the American College of Medical Genetics (ACMG) are developed by members of the NSGC and ACMG to assist geneticists, genetic counselors, and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by NSGC and ACMG for educational and informational purposes only, and NSGC and ACMG do not "approve" or "endorse" any specific methods, practices, or sources of information. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

Ethical issues in susceptibility genetic testing for late-onset neurodegenerative diseases, 2018

Genome-wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clini-cians, researchers, and direct-to-consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late-onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals. Among others, these include informed consent, disclosure of results and unexpected findings, mandatory screening, privacy and confidentiality, and stigma and genetic discrimination. Importantly, appropriate counseling is a deciding factor for the ethical soundness of genetic testing, which poses a challenge for the regulation of these tests and the training of healthcare professionals. As genetic knowledge about these diseases continues growing and genetic testing becomes more widespread, it is increasingly important to raise awareness among researchers, medical practitioners, genetic counselors, and decision makers about the ethical, legal, and social issues associated with genetic testing for polygenic diseases.

Genetics in Medicine, 2011

The practice guidelines of the National Society of Genetic Counselors (NSGC) and the American College of Medical Genetics (ACMG) are developed by members of the NSGC and ACMG to assist geneticists, genetic counselors, and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by NSGC and ACMG for educational and informational purposes only, and NSGC and ACMG do not "approve" or "endorse" any specific methods, practices, or sources of information. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.

British medical bulletin, 2011

Current Genetic Medicine Reports, 2016

Genetic testing is an important factor in an array of biomarkers that help patients and clinicians to estimate an individual's risk for developing Late-Onset Alzheimer's Disease. This array of tests makes more feasible the possibility of choosing to end one's life before one becomes demented. These new possibilities raise important ethical issues. Should clinicians, researchers, and regulators seek to erect roadblocks in the path of individuals who seek this information, in a paternalistic attempt to thwart rational suicide? Do volunteers in research have a right to the ''return of research results,'' to use those results as they see fit? Should we think of suicide in the face of impending dementia as one rational choice to preserve one's identity before the loss of self that is associated with Alzheimer's, or should we continue to view suicide as either selfish, or deranged, or both? Keywords Alzheimer's disease Á Dementia Á Genetic testing Á Suicide This article is part of the Topical collection on Ethics in Genetic Medicine.

Over the last decade, advances in our understanding about the genetic architecture of complex traits and common diseases, have increased our ability to perform susceptibility genetic testing for diseases in asymptomatic individuals. These technological developments raise complex ethical, legal and social considerations. Here we discuss a series of ethical issues associated with susceptibility genetic testing for…

International Journal for Multidisciplinary Research (IJFMR), 2024

Introduction: Alzheimer's disease (AD) is a complex neurodegenerative disorder with significant genetic and environmental components. Accurate diagnosis, genetic counseling, and risk assessment are essential for managing the disease and informing preventive and therapeutic strategies. Materials and Methods: The study conducted included a comprehensive review of current diagnostic criteria for AD, including the NINCDS-ADRDA, DSM-V-TR, and Romanian guidelines. The study examined methodologies for genetic counseling and risk assessment, focusing on both early-onset (EOAD) and late-onset (LOAD) forms of AD. The analysis integrated data from clinical evaluations, neuroimaging, genetic testing, and empirical risk tables to assess recurrence risks and provide guidance for genetic counseling. Results and Discussion: Diagnostic criteria for AD require the presence of cognitive deficits, progressive neurodegenerative processes, and exclusion of other conditions. Genetic counseling involves assessing family history, calculating recurrence risks based on empirical data table, and considering both mendelian and non-mendelian inheritance patterns. Genetic risk factors, such as mutations in PSEN2, APP, PSEN1, and APOE ε4, significantly influence the likelihood of developing AD. The recurrence risk is categorized into low, moderate, high, and very high levels, depending on genetic findings and familial patterns. The counseling process must be personalized, taking into account the patient's educational level, psychological state, and ethical considerations. Conclusion: Accurate diagnosis and effective genetic counseling are crucial for managing AD and informing at-risk individuals. Understanding genetic risk and recurrence probabilities aids in personalized prevention strategies and decision-making. Genetic counselors play a vital role in providing tailored advice while adhering to ethical standards and ensuring informed, empathetic communication with patients and their families.