Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market

In recent years, various private companies have been marketing and offering genetic tests directly to consumers. This article reviews the recent history of this commercial phenomenon. In particular, we discuss and describe the following subjects: (1) the factors that allowed for the creation of the direct-to-consumer (DTC) genetic testing (GT) market; (2) information regarding the size and potential success or failure of the DTC GT market; (3) recent changes in the DTC GT market; and (4) the recent events that may have an impact on the regulatory oversight of DTC genetic testing and the future evolution of this market. This review of factors suggests that despite the possibility of a change of business model as well as increased regulation, the commercialization of genetic testing is here to stay. As such it is important to pay close attention not only to the science underlying these tests but also to the ethical, legal, and social issues

Monitoring of risk factor/outcome combinations:A valuable supplement to birth defect monitoring

Since the thalidomide disaster in the early sixties many birth defect monitoring systems and registries have been set up to detect changes in the frequencies of specific birth defects. The primary methods of monitoring have been the statistical analysis of data on birth prevalences and teratologic analysis. The yield of this monitoring effect has nevertheless been low when one considers the lack of etiologic factors detected in this way. We therefore propose an additional strategy involving (periodic) classification of all cases in a birth defect registry according to possible risk factors and notified anomalies coupled with a search for specific associations between risk factors and (patterns of) anomalies. We here present data showing the sensitivity of the method. Sensitivity was studied by looking at some already well known associations between risk factors and congenital anomalies in our registry involving 1850 cases. The associations studied were neural tube defects and maternal use of valproic acid, numerical chromosomal anomalies and advanced maternal age, gastroschisis and low maternal age, and autosomal recessive disorders and parental consanguinity. Each of these associations was apparent in the registry, suggesting that risk factor/outcome monitoring as described here is a potentially strong method for finding new etiologic factors in birth defects.</p

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers

Newborn screening for pompe disease? A qualitative study exploring professional views

Background: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders.Methods: We conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail.Results: Advantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages.Conclusion: When weighing pros and cons, interviewees attach different importance to different arguments, based on personal and professional views. Professionals expect benefits from neonatal screening for Pompe disease, especially for early-onset cases. Some interviewees valued screening in later manifesting cases as well, while stressing the need for adequate support of pre-symptomatic patients and their families. Others considered the psychological burden and uncertainties regarding treatment as reasons not to screen