Diagnostic testing of genetic disorders: limiting the scope of patent claims through disclosure requirements

The breadth of claims in patents relating to genetic inventions has been controversial for some time. Possible adverse effects of broad claims include inhibiting research and higher costs, restricting patient access to genetic testing. The Australian Law Reform Commission's Report on Genes and Ingenuity--Gene Patenting and Human Health examined this issue, and concluded that the existing disclosure requirements contained in s 40 of the Patents Act 1990 (Cth) provide adequate mechanisms to control the breadth of claims. However, application of these requirements may be problematical in practice due to lack of relevant case law to provide guidance to patent examiners. It has been suggested that this deficit in direct judicial guidance can be obviated by developing appropriate analogies with other chemical systems in decided cases. This article focuses on gene-based diagnostic patents for human diseases, such as those held by Myriad Genetics for testing predisposition towards breast and ovarian cancer using the gene BRCA1. By examining the application of disclosure requirement by courts in genetic and non-genetic chemical inventions, it is possible to provide insight into how this might be applied by courts considering the validity of patent claims for diagnostic testing methods based on mutations in a gene such as BRCA1.     

FDA approved? A critique of the artificial insemination industry in the United States

Artificial insemination by donor is becoming an increasingly popular means to achieving parenthood. While the majority of couples use artificial insemination to overcome fertility problems, many recipients use artificial insemination to avoid passing a genetic disease to their children. However, case studies reveal the inherent dangers of artificial insemination, namely the lack of proper screening methods to avoid passing genetic diseases to children born by artificial insemination. State-by-state regulation, federal guidelines, and private adjudication have all proven to be inadequate methods of regulating the artificial insemination industry. Ginsberg proposes federal regulation as the only means of achieving a safe artificial insemination industry. The proposed federal regulation would include better genetic screening, a more efficient national sperm donor system, and limited disclosure to recipients of artificial insemination and their children. These measures would help to ensure that couples using artificial insemination get what they expect--healthy sperm, a safe artificial insemination process, and ultimately, a healthy child.     

Ambivalence of nonoffending guardians after child sexual abuse disclosure

A concern in the intervention with sexually abused children is the support of their nonoffending guardians after disclosure of the abuse. Approximately a third of nonoffending guardians respond with vacillation in support, and these nonoffending guardians are at greater risk for having their children removed. This article reconceptualizes vacillation in support as an ambivalent response. Drawing on the interdisciplinary literature, this article suggests that ambivalence in support reflects the confluence between the nonoffending guardian's valence toward the child and perpetrator. This article further proposes that ambivalence is normative when the costs of disclosure are high and when the nonoffending guardian is ambivalent/preoccupied in attachment. Ambivalence may also be both a precursor to and an effect of the traumatic experience of the disclosure on the nonoffending guardian. In a study of 30 nonoffending mothers whose partners sexually abused their children, these relationships were supported.     

Identity, genealogy, and the social family: the case of donor insemination

In this paper I discuss whether or not biographical information concerning the sperm donor should be disclosed to children conceived through donor insemination. Policies of disclosure for example in the context of adoption, have been justified on the basis of a notion of identity which emphasizes genetic ties. This notion of identity and the policies of disclosure of information concerning biological parents based on it, have been criticized by many writers, including feminists, as reinforcing explanations of human organization and development based on biological determinism rather than on ideas such as social construction. Further, this notion of identity is seen to emphasize the importance of genetic parenthood over the commitment involved in bringing up a child as a social parent. While agreeing with these criticisms of that particular notion of identity, I argue that the notion of identity as a whole should not be summarily rejected. Rather, it should be re-interpreted using a sociological approach incorporating the notion of narrative. This second narrative notion of identity is developed with reference to the situation of some groups of children, who like those born from donor insemination, generally do not have any knowledge of their biological parent[s], for example adoptees, the children of the disappeared in Argentina and child migrants. In this paper, policies of disclosure which allow these children to gain some knowledge of their biological parents are discussed in light of the two notions of identity. It is argued that disclosure may be justified on the basis of a narrative notion of identity. This allows for the rigid dichotomy created between biological determinism and social construction: the importance of social parents to the child is emphasized, however the desire a child may have to know something about her or his biological parent is not denied or dismissed.     

论我国基因信息不知情权的确立

基因信息对健康状况具有强烈的预测性,出于诸种原因当事人未必想知晓基因信息.为充分尊重自我决定权,比较法上承认权利人享有基因信息不知情权.基因信息不知情权指权利人有权预先决定是否接受基因信息的披露,其核心要义为“知情拒绝权”.基因信息不知情权旨在保障权利人对基因信息的自主控制,在我国隐私权与个人信息区分规制的立法模式下,...     

Interviewing to Elicit Cues to Deception: Improving Strategic Use of Evidence with General-To-Specific Framing of Evidence

Previous research has demonstrated that the strategic use of evidence (SUE) approach of interviewing criminal suspects is effective at eliciting cues to deception. This study aims at expanding on the SUE approach by testing the technique of general-to-specific evidence framing. We conducted an experiment using a mock terrorism paradigm. Guilty participants took part in a simulated act of terrorism, while innocent participants performed a similar act involving no transgression. All participants (N?=?102) were then interviewed using one of four evidence disclosure styles (early disclosure, late disclosure, 2-step disclosure, or 4-step disclosure). We expected that disclosing evidence to the suspect gradually, with increasing specificity, would induce guilty suspects to alter their statements to a greater extent than innocent suspects. General-to-specific evidence framing effectively discriminated between guilty and innocent suspects, but results only partially supported the hypotheses.     

The Ethics of Corporate Lawyers: A Sociological Approach

The American Bar Association is considering a revision of its Code of Professional Responsibility. One revision deals specifically with lawyers whose clients are organizations; it attempts to delineate the ethical responsibilities of such lawyers when they discover an employee or a member of one of their clients is engaged in wrongdoing on the organization's behalf. Because the proposal suggests that corporate counsel may be justified in public disclosure of the wrongdoing when the organization itself fails to rectify the problem, it has sparked much controversy in the profession and much speculation as to whether and when corporate counsel will "blow the whistle." The article offers a sociological perspective on the act of a corporate counsel's public disclosure of organizational wrongdoing. The act of disclosure is treated as a social behavior, the likelihood of which is increased or decreased by a number of factors including the attorney's awareness of the wrongdoing, the attorney's orientations to the larger profession, the structure of the professional practice setting within which the counsel is located, and the supports for disclosure offered by the legal profession through its formal organizations. These factors are described and then combined into a general predictive model of disclosure by corporate counsel. A concluding discussion of the general ramifications of the proposed revisions focuses on the social implications of the attorney-client privilege, in which the client is as unique an actor as is the large organization.     

Disentangling privacy from property: toward a deeper understanding of genetic privacy

With the mapping of the human genome, genetic privacy has become a concern to many. People care about genetic privacy because genes play an important role in shaping us--our genetic information is about us, and it is deeply connected to our sense of ourselves. In addition, unwanted disclosure of our genetic information, like a great deal of other personal information, makes us vulnerable to unwanted exposure, stigmatization, and discrimination. One recent approach to protecting genetic privacy is to create property rights in genetic information. This Article argues against that approach. Privacy and property are fundamentally different concepts. At heart, the term "property" connotes control within the marketplace and over something that is disaggregated or alienable from the self. "Privacy," in contrast, connotes control over access to the self as well as things close to, intimately connected to, and about the self. Given these different meanings, a regime of property rights in genetic information would impoverish our understanding of that information, ourselves, and the relationships we hope will be built around and through its disclosure. This Article explores our interests in genetic information in order to deepen our understanding of the ongoing discourse about the distinction between property and privacy. It develops a conception of genetic privacy with a strong relational component. We ordinarily share genetic information in the context of relationships in which disclosure is important to the relationship--family, intimate, doctor-patient, researcher-participant, employer-employee, and insurer-insured relationships. Such disclosure makes us vulnerable to and dependent on the person to whom we disclose it. As a result, trust is essential to the integrity of these relationships and our sharing of genetic information. Genetic privacy can protect our vulnerability in these relationships and enhance the trust we hope to have in them. Property, in contrast, by connoting commodification, disaggregation, and arms-length dealings, can negatively affect the self and harm these relationships. This Article concludes that a deeper understanding of genetic privacy calls for remedies for privacy violations that address dignitary harm and breach of trust, as opposed to market harms, as the property model suggests.     

Legal parent versus biological parent: the impact of disclosure

This article addresses arguments regarding disclosure of information to donor-conceived individuals, showing that disclosure is entirely different from the recognition of parental rights and responsibilities for the gamete providers. It argues that disclosure of information is not equivalent to saying: "donors are parents". Instead, information release simply provides a basis for donors, donor-conceived individuals and recipient parents to exchange information about themselves. When a jurisdiction enacts laws that provide for such information release, these statutes are distinct from any other legal rights and responsibilities for any members of the donor-conceived community. In its first section, the article briefly explains the means for determining legal parentage before reviewing research on how parents tell their children about their means of conception. Next, it explores studies of why members of the donor-conceived world search, providing an empirical basis for the claim that disclosure does not equal parenthood. The article explores concerns about information release, and, in the final section, suggests possible approaches for protecting the rights of donor-conceived people while reinforcing the legal separation between social and biological parents.     

Investigating genetic discrimination in the Australian life insurance sector: the use of genetic test results in underwriting, 1999-2003

A major component of the Genetic Discrimination Project (GDP), an Australia-wide study to examine the advantages and disadvantages for individuals of having genetic information and cases of alleged genetic discrimination, is the analysis of insurers' use of genetic test results. The peak life insurance body, IFSA, had collected data through the Australian Institute of Actuaries (AIA) for the period June 1999-May 2003 from life insurance companies in Australia regarding their use of genetic test results in insurance underwriting. The GDP negotiated with IFSA and the AIA for access to this data for independent analysis. Applications from 288 individuals who had disclosed a genetic test result included products for cover for death, trauma/crisis, income protection/disability and total and permanent disablement. A total of 81% (234/288) contained usable data for analysis. These cases involved the genetic conditions haemochromatosis (71%), Huntington disease (12%) and breast/ovarian cancer (6%). In 49% of cases, the genetic test result was described as the only influencing factor and of these, 32% involved a "positive" genetic test result. Whilst underwriting in most cases appeared to be reasonable, the article highlights several cases involving disclosure of a positive predictive test result for breast/ovarian cancer that required further investigation.     

The Transparency Trap: Non‐Financial Disclosure and the Responsibility of Business to Respect Human Rights

This article examines the potential for transparency programs to improve corporations’ human rights performance. The primary focus is on “general” transparency programs such as the inclusion of human rights issues in sustainability reports. Regulators increasingly rely on such programs, one of which is the EU Directive on the Disclosure of Non‐financial Information, which many commentators view as a model for legislation in other countries and for a business and human rights treaty. This article identifies several problems with this approach. The human rights metrics used in current sustainability reporting standards often lack validity or are based upon data that is most easily collected, rather than most important. Moreover, the empirical evidence on sustainability reporting shows continued problems of selective disclosure, impression management, incomparable disclosures, and the use of disclosure as an end in itself (as opposed to a process that leads to organizational change). To move forward, regulators should shift focus to a model grounded in regulatory pluralism. Under this approach, regulators would combine a selection of targeted transparency mechanisms to create a more complete regulatory system that corrects for one disclosure mechanism's weaknesses by including others that have complementary strengths.     

The State of the Debate About Children's Disclosure Patterns in Child Sexual Abuse Cases

In current research studies about the disclosure patterns of sexually abused children, experts agree that most victims delay disclosure for years, often until adulthood. Researchers disagree about disclosure rates and recantation rates among children during formal interviews. Studies of children who had not previously disclosed but are known through corroborative evidence to have been sexually abused show lower rates of disclosure than do studies of children who had disclosed prior to the formal interview. Gradual disclosures among children are common, and more than a single interview may be necessary in some cases. Prior disclosure, level of support by non‐offending parents, developmental level, and relationship to perpetrator affect children's rates of disclosure and their disclosure patterns. More research is necessary to clarify children's post‐disclosure recantation rates and predictors.     

Workers' Compensation, Social Security Disability, SSI, and Genetic Testing

This article argues that the use of genetic testing to determine eligibility for worker compensation and/or social security disability benefits would seriously undermine the social purposes of the laws.     

Newborn screening in the genomics era

Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical markers that indicate a disorder. The potential use of whole-genome newborn screening (WG-NBS) as an alternative to the current biochemical testing utilized for NBS would dramatically expand the quantity and types of information parents could learn from screening and is likely to have many implications, both positive and negative. As whole-genome sequencing (WGS) becomes more economical, it probably will be used for the purposes of NBS. However, such an expansion of NBS would contradict many of the principles that have historically guided public health screening programs and, if implemented without sufficient preparation, could result in insufficient infrastructure to accommodate the health care and data management needs that would arise. This article will first look at the past and present of NBS, then the rise of whole genome sequencing, before considering the challenges of WG-NBS, and will end with some thoughts on the path forward.     

Why should disclosure rules subsidize informed traders?

This article justifies the existence of disclosure provisions as part of the securities laws. Securities prices may deviate from the securities' underlying values due to “irrationalities.” Market efficiency (i.e., the accuracy of securities' prices) materializes through the trading of investors who observe and attempt to profit from these inefficiencies. The danger of false prices deters the corrective trading of these “informed traders”. This article argues that disclosure rules provide them with costless information, essentially subsidizing their activity. The cost of this subsidy is borne by the corporation, i.e., all shareholders, of which informed traders are only a fraction. Long-term shareholders would not subsidize efficiency absent disclosure rules because, they do not trade, and they do not reap the benefits of accurate prices. This subsidy fosters short-term uninformed shareholdings and, thus, increases trading volume and capital market liquidity.     

Genetic Information and the Challenge to Privacy

Genetic screening and testing techniques provide a new and powerful diagnostic tool for the acquisition of predictive information. The potential value of such diagnostic techniques cannot be overstated. Genetic diagnostic tests pave the way for the development of gene therapy techniques which may provide remedies for diseases previously considered untreatable. There are clearly tremendous opportunities for improving the quality of life of those who suffer from genetic disorders as well as opportunities for biotechnology and pharmaceutical companies to swell their profits. A complex of pressures and tensions is currently developing around the use of genetic technology for therapeutic purposes in human beings. This paper considers only one element of this complex and dynamic situation, that of the regulatory climate surrounding the use of genetic screening in Europe. If, as many pharmaceutical companies concede, the key to the development of successful gene therapy products is the freedom to use genotyping and genetic screening without significant legal restriction, then the regulatory climate has a crucial significance for the future of this technology. It emerges, however, that there are other interests at stake apart from just those of the patients and the pharmaceutical companies. Insurance companies and employers are also highly interested in the acquisition and use of genetic information. There are arguments both for and against permitting such entities to use or request genetic testing and screening which shall be traversed in the body of the paper. However, the interest of insurance companies and employers in genetic information has stimulated a countercurrent of public pressure for restrictions on the use that can be made of genetic diagnostic information. In a number of countries, this pressure has generated enough concern to stimulate legislatures to seek to enact laws that curtail the use and acquisition of genetic information. This pattern has clearly emerged in the United States and there are strong indications that similar trends are developing in Europe. This article catalogues and critiques the laws and regulations currently affecting genetic screening and testing in Europe.     

Mandatory accounting disclosure by small private companies

This article analyzes how mandatory accounting disclosure is grounded on different rationales for private and public companies. It also explores technological changes, such as computerised databases and the Internet, which have recently made disclosure of company accounts by small companies potentially less costly and more valuable, thanks to electronic filing and universal online access to credit information systems. These recent developments favour policies that would expand the scope of mandatory publication for small companies in countries where it is voluntary. They also encourage policies to reduce the costs and enhance the value of disclosure through administrative reforms of filing, archive and retrieval systems. Survey and registry evidence on how the information in the accounts is valued and used by companies is consistent with these claims about the evolution of the tradeoff of costs and benefits that should guide policy in this area.     

Passing it on: should health care professionals be permitted to disclose patients' genetic information to their reproductive partners?

This article considers whether Australian law should permit health care professionals to disclose patients' genetic information to their reproductive partners without the patients' consent. The issue is addressed with reference to four genetic disorders (Huntington Disease, Familial Adenomatous Polyposis, Multiple Endocrine Neoplasia Type 2A and Cystic Fibrosis) which illustrate differences in inheritance traits and availability of effective treatments. The article explores the familial nature of these disorders and the notion that genetic information has implications which extend beyond the individual patient to third parties such as reproductive partners. It addresses the opinions of legal academics and regulatory bodies regarding the potential amendment of Australian laws to permit such disclosure. Ultimately, it is submitted that the application of current laws regarding medical information to the needs of genetics is unlikely to generate adequate results. To allow for a more appropriate response to this debate, health care professionals' duties to patients should be qualified when it concerns reproductive partners.     

Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations

Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing children for adult conditions, and selection of conditions to be reported on, illuminates concerns for and conservation of bioethical principles—specifically, autonomy and non-directiveness. With the historical context of genetic testing in mind, this article studies the potential application of the ACMG recommendations to embryonic testing in the form of preimplantation genetic diagnosis. Theoretical extension of the current recommendations assists in the identification of bioethical dilemmas and possible societal impacts. The recommendations make a statement on the importance of diagnosis and intervention for specific genetic conditions, setting a precedent for disease classification and patient autonomy. In the extreme, the clinical application of such recommendations prenatally may result in discarded embryos, and less societal tolerance of specific conditions. Skilled professionals, such as genetic counselors, researchers, and lawmakers must work together to maintain patient autonomy, providing care in the best interest of each patient.     

Give them what they want? The permissibility of pediatric placebo-controlled trials under the best pharmaceuticals for children act

This article discusses the Best Pharmaceuticals for Children Act and the FDA's request for placebo-controlled studies of drugs to treat OCD and depression in children. First, the article explains the need to test drugs in children and examines the reasons this testing has not occurred. Next, the article describes the legislative and administrative responses to remedy this lack of research and assesses the ethics and legality of their implementation. The article concludes that these initiatives are legally and ethically acceptable until a safe and effective treatment is determined--at which point the use of placebos in pediatric testing must be replaced with active controls.