Glenn McGee

Genetic Basis for Congenital Heart Defects: Current Knowledge A Scientific Statement From the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics

The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.

Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome A Statement for Healthcare Professionals From the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association

Over the last several years, substantial progress has been achieved in defining the molecular basis for several genetically transmitted, nonatherosclerotic cardiovascular diseases. These advances in molecular biology have enhanced our understanding of the primary defects and basic mechanisms responsible for the pathogenesis of these conditions and their phenotypic expression, and in the process, new perspectives on cardiac diagnosis have been formulated. In the course of this scientific evolution, a certain measure of uncertainty has also arisen regarding the implications of genetic analysis for clinical diagnostic criteria. New subgroups of genetically affected individuals without conventional clinical diagnostic findings have been identified solely by virtue of access to molecular laboratory techniques, creating a number of medical and ethical concerns regarding the possible clinical implications. Indeed, the extent to which such individuals should receive sequential evaluations and/or therapy or be subjected to employment or insurance discrimination, psychological harm, loss of privacy, or unnecessary withdrawal from competitive athletics is uncertain but remains a legitimate source of concern. It is therefore particularly timely and appropriate to analyze these issues in detail, specifically the extent to which molecular biology has revised traditional diagnostic criteria. The role of genetic testing in assessing prognosis and identifying high-risk subgroups or in defining basic disease mechanisms and pathophysiology is, however, largely beyond the scope of this scientific statement. As models for the present critique, we selected the 3 most common familial cardiovascular diseases for which gene defects have been identified, each of which is associated with autosomal dominant inheritance and a risk for sudden cardiac death: hypertrophic cardiomyopathy (HCM), long-QT syndrome (LQTS), and Marfan syndrome (MFS).

A National Study of Ethics Committees

Conceived as a solution to clinical dilemmas, and now required by organizations for hospital accreditation, ethics committees have been subject only to small-scale studies. The wide use of ethics committees and the diverse roles they play compel study. In 1999 the University of Pennsylvania Ethics Committee Research Group (ECRG) completed the first national survey of the presence, composition, and activities of U.S. healthcare ethics committees (HECs). Ethics committees are relatively young, on average seven years in operation. Eighty-six percent of ethics committees report that they play a role in ongoing clinical decision making through clinical ethics consultation. All are engaged in developing institutional clinical policy. Although 4.5% of HECs write policy on managed care, 50% of HEC chairs feel inadequately prepared to address managed care. The power and activity of ethics committees parallels the composition of those committees and the relationship of members to their institutions. The role of ethics committees across the nation in making policies about clinical care is greater than was known, and ethics committees will likely continue to play an important role in the debate and resolution of clinical cases and clinical policies.

Iceland Inc.?: On the ethics of commercial population genomics

A detailed analysis of the Icelandic commercial population-wide genomics database project of deCODE Genetics was performed for the purpose of providing ethics insights into public/private efforts to develop genetic databases. This analysis examines the moral differences between the general case of governmental collection of medical data for public health purposes and the centralized collection planned in Iceland. Both the process of developing the database and its design vary in significant ways from typical government data collection and analysis activities. Because of these differences, the database may serve the interests of deCODE more than it serves the interests of the public, undermining the claim that presumed consent for this data collection and its proprietary use is ethical. We believe that there is an evolving consensus that informed consent of participants must be secured for population-based genetics databases and research. The Iceland model provides an informative counterexample that holds key ethics lessons for similar ventures.

Genetic Basis for Congenital Heart Defects: Current Knowledge

The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.

Genetic basis for congenital heart defects: Current knowledge - A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young

The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.

Successes and Failures of Hospital Ethics Committees: A National Survey of Ethics Committee Chairs

In 1992, the Joint Commission on the Accreditation of Healthcare Organizations (JCAHO) passed a mandate that all its approved hospitals put in place a means for addressing ethical concerns.Although the particular process the hospital uses to address such concerns—ethics consultant, ethics forum, ethics committee—may vary, the hospital or healthcare ethics committee (HEC) is used most often. In a companion study to that reported here, we found that in 1998 over 90% of U.S. hospitals had ethics committees, compared to just 1% in 1983, and that many have some and a few have sweeping clinical powers in hospitals.

Parenting in an Era of Genetics

Most parents want to improve the lot of their children. Providing a safe environment, a healthful diet, a good education, exposure to diverse experiences are some of the more conventional means of enhancing the health and opportunities of children. Increasingly, parents or would-be parents are being offered genetic means for enhancing their childrens lives. To whichever means parents turn, the road to enhancement is paved with some deadly and not-so-deadly sins that all parents and social stewards ought to learn to avoid. They are calculativeness, overbearingness, shortsightedness, hasty judgment, and pessimism.

Phronesis in clinical ethics

This essay argues that while we have examined clinical ethics quite extensively in the literature, too little attention has been paid to the complex question of how clinical ethics is learned. Competing approaches to ethics pedagogy have relied on outmoded understandings of the way moral learning takes place in ethics. It is argued that the better approach, framed in the work of Aristotle, is the idea of phronesis, which depends on a long-term mentorship in clinical medicine for either medical students or clinical ethics students. Such an approach is articulated and defended.

Lessons across the Pond: Assisted Reproductive Technology in the United Kingdom and the United States

I. INTRODUCTION Scholars of differing political affiliation and the Presidents Council on Bioethics have called for regulation of assisted reproductive technology (ART) that would emulate many aspects of the regulatory system of the United Kingdom, in particular that of the Human Fertilisation and Embryology Authority. Specifically, scholars and the Council have argued that research in the U.S. involving gametes and human embryos lacks consistent oversight.1 While the Centers for Disease Control and Prevention (CDC) produces an annual ART success rate report,2 submission of data is guaranteed only by the promise that non-responders will be noted as such in the appendix of CDCs report, and most ART clinics publish success rates on the Internet in a much more recognized forum: website advertising. Moreover, U.S. law does not require licensing or accreditation of infertility programs and few regulations govern embryo research.3 While the large majority of clinics report their success rate data, and many follow practice standards and apply for accreditation from private agencies, these practices are strictly voluntary.4 Clinics failing to report their success rates face no legal consequence. In contrast, Great Britains Human Fertilisation and Embryology Authority (HFEA) has complete authority over fertility clinics and human embryo research in the United Kingdom.5 All clinics and labs using gametes or human embryos must receive a license from the HFEA.6 British clinics and embryo laboratories follow clear guidelines for data reporting, advertising, confidentiality, and clinic practices, which the HFEA enforces through powers granted by the British Parliament. While some American clinicians would argue that the HFEA restricts the freedom of clinics and researchers, the HFEA has shown the ability to adapt its policies to reflect changing technology while maintaining its moral bedrock: protecting the welfare of the child. In her benchmark comparison of British and American policy governing infertility, Gladys White7 argued quite explicitly that the British system is a good guide for U.S. policy. She based her argument on a review of U.K. policy and in particular on a visit to the HFEA in London. Whites pro-HFEA position has become a staple argument in bioethics and legal scholarship. In this paper, we compare the two systems in greater detail, taking issue with the conclusions drawn by White and others. In Part II, we compare the role of the HFEA in the United Kingdom to the authority and limitations of several agencies and organizations in the United States. These are the Centers for Disease Control and Prevention (CDC), the American Society for Reproductive Medicine (ASRM), the Society for Assisted Reproductive Technology (SART), the American College of Obstetrics and Gynecology (ACOG), the Food and Drug Administration (FDA), and the Department of Health and Human Services (DHHS). Relying heavily on our review of the existing policies and on Dr. McGees comparative analysis of the HFEA and American institutions-conducted for the Commonwealth Foundation during 2000-2002(8)-we address the roles of these organizations and the HFEA in legislation, data collection, licensing, and regulation of fertility clinics and embryo research. Our comparison reveals the patchwork and essentially unenforceable nature of the American regulatory system, and the centralized, effectual authority of the HFEA. In Part III, we examine the effect that trans-Atlantic discourse has had on recent regulatory policy shifts and important ethical debates in reproductive medicine. Specifically, we analyze the feasibility of importing a U.K.-style system to the U.S. and the strengths and roots of the current U.S. system. We explore specific regulations regarding reproduction technology including embryonic stem cell research, in vitro fertilization (IVF), and novel infertility treatments (ooplasmic transplantation and egg freezing) involving the use of human cells, tissues, semen, and oocytes. …