Tackling legal challenges posed by population biobanks: reconceptualising consent requirements

This paper examines, from an Australian and international perspective, the phenomenon of population 'biobanks' (research platforms comprising collections of human genetic samples or 'biospecimens' and relevant personal information) and the legal challenges that this development presents. In particular, the paper focuses on the legal concept of consent and the tensions on the traditional understanding of consent that large-scale, long-term population biobanks exert. The aim of the paper is to review the operation of consent principles as they apply to population biobanks and to propose a way forward for how the consent concept can be reconceptualised to meet their demands. In particular, the paper argues for a more liberal approach which allows for 'broad' (or 'enlarged' or 'open') consent in circumstances where permission is sought for future use of samples in, as yet unspecified, genetic research. In pursuing this aim, the objectives underlying this paper are to ensure that unnecessary impediments to research are removed and, at the same time, to facilitate research participation and respect for autonomous choices by research subjects.     

Human genetic research databases and biobanks: towards uniform terminology and Australian best practice

This article examines international best practice for the establishment, maintenance and use of human genetic research databases (HGRDs), particularly focusing on large-scale population biobanks, and considers the measures that should be taken in Australia to comply with this best practice. These HGRDs play a pivotal role in basic research aimed at understanding the basis of human disease at the genetic level, and applied research aimed at putting that basic knowledge into practical application. In particular, the large-scale biobanks are vital research tools in the drive to uncover the causes and consequences of human health and disease. Biobanks are being established at regional, national and international levels throughout the world. Although their governance structures are uniformly complex, some best practices are emerging with regard to consent (particularly consent to future research and withdrawal of consent), privacy and data protection and intellectual property ownership and access. Best practices with regard to benefit-sharing are emerging much more slowly. This article reviews these international best practices with the aim of providing guidance for the development of appropriate regulatory structures in Australia.     

The ethical, legal and social implications of umbilical cord blood banking: learning important lessons from the protection of human genetic information

Internationally networked umbilical cord blood banks hold great promise for better clinical outcomes, but also raise a host of potential ethical and legal concerns. There is now significant accumulated experience in Australia and overseas with regard to the establishment of human genetic research databases and tissue collections, popularly known as "biobanks". For example, clear lessons emerge from the controversies that surrounded, stalled or derailed the establishment of some early biobanks, such as Iceland's deCODE, Autogen's Tonga database, a proposed biobank in Newfoundland, Canada, and the proposed Taiwan biobank. More recent efforts in the United Kingdom, Japan, Quebec and Tasmania have been relatively more successful in generating public support, recognising the critical need for openness and transparency, and ample public education and debate, in order to build community acceptance and legitimacy. Strong attention must be paid to ensuring that other concerns--about privacy, discrimination, informed consent, governance, security, commercial fairness and financial probity--are addressed in structural terms and monitored thereafter, in order to maintain public confidence and avoid a backlash that inevitably would imperil such research. Once lost, credibility is very difficult to restore.     

An opportunity for research and bioethics]

This article looks at the draft bill of the law on Biomedical Research. It analyses its novelties, such as: the creation of a Spanish Bioethics Committee, the new regulation on nuclear transfer, biobanks and finally the setting of the groundwork for the fostering of the professional degree of researcher in the National Health System. This draft bill is a great opportunity for the scientific community.     

Genetic data on 15 STRs in a population sample of religious minority of Old Believers residing in the northeastern Poland

This study provides a 15 STRs database for a population sample of Old Believers (n = 136) living in the northeastern Poland for the use as a highly discriminatory system of genetic markers in population studies and in personal identification. Significant differences revealed between the Old Believers and the autochthonous Poles by using RxC test as well as F(ST) and F(IS) estimates suggest a certain degree of genetic isolation of this religious minority.     

The emergence of biobanks in the legal landscape: towards a new model of governance

Biobanks are increasingly seen as new tools for medical research. Their main purpose is to collect, store, and distribute human body materials. These activities are regulated by legal instruments which are heterogeneous in source (national and international), and in form (binding and non-binding). We analyse these to underline the need for a new model of governance for modern biobanks. The protection initially ensured by respect for fundamental rights will need to focus on more interactions with society in order to ensure biobanks' sustainability. International regulation is more oriented on ethical principles and traces the limits of the uses of genetics, while European regulation is more concerned with the protection of fundamental rights and the elaboration of standards for biobanks' quality assurance. But is this protection adequate and sufficient? Do we need to move from the biomedical research analogy to new forms of legal protection, and governance systems which involve citizens?     

Autosomal microsatellite allele frequencies for 15 regionally defined Aboriginal Australian population datasets

DNA profiling results presented in court must be accompanied by a statistical estimate of its evidential weight. In calculating such statistics, allele frequencies from the tested loci are required. These allele frequencies should be collected at a level that appropriately represents the genetic diversity that exists in the population. This paper reports allele frequencies and the results of population genetic testing of autosomal microsatellite profiles from indigenous Australian donors. In contrast to previous practice these data have been collated according to traditional regional boundaries rather than recently imposed State and Territory borders.     

A comparative analysis of selected European guidelines and recommendations for biobanks with special regard to the research / non-research distinction.

Classifying an activity as research has considerable normative consequences: On the one side research activities are especially protected ("freedom of research"), on the other side stricter ethical rules legal regulations may apply to such activities, e.g. compulsory review by ethics committees. It is therefore important to find criteria to delimit research from non-research activities. The aim of the present study is to analyse some European guidelines and recommendations for biobanks and to see whether these documents provide comments that help to elucidate the research/non-research distinction.     

Development of the X-linked tetrameric microsatellite marker HumDXS6789 for forensic purposes

This paper presents sequence and population genetic data of the X-linked DXS6789 short tandem repeat (STR). The tetranucleotide repeat polymorphism DXS6789, also known as CHLC.GATA31F01, is located at the Xq22.3 region. This locus is unlinked with DXS6807 and slightly linked with ARA, DXS9898 and HPRTB. In kinship testing, DXS6789 is suitable for concomitant use with DXS6807. Population genetic data were obtained by analysing 250 unrelated males and 315 females from East Germany. In this population, the STR exhibited 12 clearly distinguishable alleles ranging from 154 to 198bps in length. DXS6789 is characterised by the following data: polymorphic information content (PIC)=0.70; observed heterozygosity (Het)=0.78; mean exclusion chance (MEC)=0.70. A deviation from the Hardy-Weinberg equilibrium could not be detected. The investigations we performed in 243 mother-child and 161 father-child meioses did not reveal any mutations.     

广西地区壮族人群17个STR基因座遗传多态性研究

目的调查广西地区壮族人群17个STR基因座遗传多态性,为法医物证鉴定和群体遗传研究提供基础数据。方法收集2624份广西地区壮族人群无关个体样本采用Chelex-100提取样本DNA,用PowerPlex■18D System试剂盒进行PCR扩增及检测,计算群体遗传学参数。结果17个常染色体STR基因型分布均符合Hardy-Weinberg平衡定律(P>0.05),共检测出235个等位基因,971种基因型,累积个体识别率(TDP)为0.999999999999999,累积非父排除率(CPE)为0.999999772。结论17个STR基因座在广西地区壮族人群中具有较好的遗传多态性,可以用于法医学中个体识别和亲权鉴定,也可用于群体遗传学及法医学研究。     

Use of subpopulation data in Australian forensic DNA casework

DNA profiling evidence presented in court should be accompanied by a reliable estimate of its evidential weight. In calculating such statistics, allele frequencies from commonly employed autosomal microsatellite loci are required. These allele frequencies should be collected at a level that appropriately represents the genetic diversity that exists in the population. Typically this occurs at broadly defined bio-geographic categories, such as Caucasian or Asian. Datasets are commonly administered at the jurisdictional level. This paper focuses on Australian jurisdictions and assesses whether this current practice is appropriate for Aboriginal Australian and Caucasian populations alike. In keeping with other studies we observe negligible differences between Caucasian populations within Australia when segregated geographically. However segregation of Aboriginal Australian population data along contemporary State and Territory lines appears to mask the diversity that exists within this subpopulation. For this reason datasets collated along more traditional lines may be more appropriate, particularly to distinguish the most genetically differentiated populations residing in the north of the continent.     

Development of the X-linked tetrameric microsatellite markers HumDXS6803 and HumDXS9895 for forensic purpose

This paper presents sequence and population genetic data of the X-linked DXS6803 and DXS9895 short tandem repeat (STR). The tetranucleotide repeat polymorphism DXS6803 (also known as CHLC.GATA45H11) and DXS9895 (also known as CHLC.GATA124B04) are located at the Xq12-Xq21.33 and Xpter-Xp22.2 region, respectively. In kinship testing, DXS6803 and DXS9895 are suitable for concomitant use. Population genetic data were obtained by analyzing 182 unrelated females and 110 males from Chinese Han population. In this population, both DXS6803 and DXS9895 exhibited seven clearly distinguishable alleles ranging from 109bp to 128bp and 139bp to 163bp in length, respectively. Testing for Hardy-Weinberg equilibrium (HWE) showed no significant deviation for these two loci. The polymorphism information content (PIC), observed heterozygosity (H(obs)) and power of exclusion for parentage testing of a girl for trios (PE(trio)) and duos (PE(duo)) were 0.67, 0.687, 0.673 and 0.530 for DXS6803, and 0.69, 0.736, 0.688 and 0.547 for DXS9895, respectively. Seventy-eight families studies of these two loci confirmed X-linked codominant inheritance and mutations were not found.     

A nation's genes for a cure to cancer: evolving ethical, social and legal issues regarding population genetic databases

The advent of the human genome sequence has focused research on understanding underlying genetic links to complex diseases such as cancer, asthma and heart disease. In the past few years, individual countries, such as Iceland, Estonia, Singapore and the United Kingdom, have created national databases of their citizens' DNA for comparative research. Most recently, an international consortium including Nigeria, Japan, China and the United States launched a $100 million project called the International HapMap to map the human genome according to haplotypes, blocks of DNA that contain genetic variation. Such population genetic databases present challenging ethical, social and legal issues, yet regulation of genetic information has developed sporadically, from region to region, without a consistent international standard. Without a clear understanding of the consequences of genetic research in terms of individual and community-wide discrimination and stigmatization, genetic databases raise concerns about the protection of genetic information. This Note provides a survey of the evolving landscape of population genetic databases as a legislative and public policy tool for national and international regulators. It compares different approaches to regulating the collection and use of population genetic databases in order to understand what areas of consensus are formulating a foundation for an international standard. As the first population genetics project that will span multiple countries for the collection of DNA, the International HapMap has the potential to become an influential standard for the protection of population genetic information. This Note highlights issues among the national databases and the HapMap project that raise ethical, social and legal concerns for the future and recommends further protections for both individual donors and community interests.     

Population genetic studies: is there an emerging legal obligation to share benefits?

It appears that large-scale population genetic studies are the necessary next step in genomics research. Such studies promise to provide correlative data to permit researchers to understand the etiology of a vast array of complex human diseases. Simultaneously, such studies are increasingly seen as yet another mechanism for the developed world to benefit at the expense of the developing world. In fact, a recent World Health Organization Report suggests that "without explicit attention at the international level, the initial technological fruits of genomics are likely to consist primarily of therapeutic and diagnostic applications for conditions affecting large populations in rich countries." (World Health Organization, Genomics and World Health, 2002). In developed and developing countries alike, there are concerns that the pharmaceutical industry stands to gain at the expense of the population(s) from which population genetic data are derived. In light of the current interest concerning ongoing population genetic studies and an increasing interest by many countries, Canada included, in embarking on large-scale population genetic research, it is appropriate to consider the concept of benefit-sharing as a potential mechanism to assuage these concerns. It is the author's position that by virtue of common law equitable principles and developing norms in international law, including the Human Genome Organization Statement on Benefit-Sharing, that there are principled legal and ethical reasons to compel the sharing of benefits that accrue from the commercialization of the resulting data. Using the United Nations Convention on Biological Diversity and the Bonn Guidelines as a model, I suggest that appropriate benefit-sharing mechanisms have been considered in the context of non-human biological materials and that these same mechanisms may be applicable in the context of international and intra-national population genetic studies.     

焦磷酸测序技术及其法医学应用

焦磷酸测序技术是一类高通量、稳定、无需电泳、实时检测和定量的自动化测序技术,并广泛地应用于序列分析、遗传变异检测及定量分析的领域。对该技术的新进展及其在法医学和群体遗传学的应用作一综述。     

Population data from sub-populations of the Northern Territory of Australia for 15 autosomal short tandem repeat (STR) loci

It is a requirement that forensic DNA profiling evidence be accompanied by an estimation of its weight, in order that the court can assign an appropriate probative value to the evidence during legal proceedings. There are various models by which this estimation can be made, but each relies on approximations of the allele frequencies in the relevant population. It is also important to assess relevant population genetic features of the available data. This report provides allele frequencies and estimates of common population genetic parameters for the major sub-populations of the Northern Territory of Australia genotyped at 15 autosomal short tandem repeat (STR) loci.     

Reporting of highly individual genetic typing results: a practical approach.

This paper considers the interpretation of serological typing data as a problem in forensic science, as opposed to a problem in population genetics or statistics. Controversies arising in this area are partly due to an overly narrow perspective that ignores basic forensic science principles. After an initial discussion of the special problem that deoxyribonucleic acid (DNA) blood typing poses to forensic science, the three difficulties common to all the proposed interpretive methods are discussed. These are: predicting genotype incidence from allele frequencies, predicting frequencies for the joint occurrence of genotypes in a number of different genetic marker systems, and determining the appropriate population to use to measure the frequencies. The inability to test assumptions that are inherent in our routine methods is noted. This is a procedural weakness that unnecessarily limits the admissibility of DNA typing evidence in court. A practical solution to this problem is offered that begins with minimal assumptions. Initially a statement is made based on (1) how many reference samples the laboratory has typed and (2) how many of these samples show genotypes corresponding to the case samples. The second stage of the presentation begins with a statement that additional assumptions are necessary to fully interpret the evidence and that although these assumptions are scientifically very reasonable, they cannot be absolutely proven. The presentation can then proceed, if desired, to consideration of the specific assumptions and frequency estimates of any of the methods that have been proposed to date. To follow this approach population data must be kept in a form that allows the simple first-stage statement to be made. This means that each individual's record would include typing results in each genetic marker system. Although this method of data storage differs from that used in most forensic science laboratories, it is exceptionally versatile, and allows great flexibility in data analysis.     

Forensic Analysis of mtDNA Haplotypes from Two Rural Communities in Haiti Reflects Their Population History

Abstract: Very little genetic data exist on Haitians, an estimated 1.2 million of whom, not including illegal immigrants, reside in the United States. The absence of genetic data on a population of this size reduces the discriminatory power of criminal and missing‐person DNA databases in the United States and Caribbean. We present a forensic population study that provides the first genetic data set for Haiti. This study uses hypervariable segment one (HVS‐1) mitochondrial DNA (mtDNA) nucleotide sequences from 291 subjects primarily from rural areas of northern and southern Haiti, where admixture would be minimal. Our results showed that the African maternal genetic component of Haitians had slightly higher West‐Central African admixture than African‐Americans and Dominicans, but considerably less than Afro‐Brazilians. These results lay the foundation for further forensic genetics studies in the Haitian population and serve as a model for forensic mtDNA identification of individuals in other isolated or rural communities.     

Genetic data of 10 X-STRs in a Spanish population sample

In this work, we present population genetic data of 10 X-chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) obtained from sample of 145 unrelated female individuals belonging to Valencia (Spain), a region located in the east of the Iberian Peninsula. All the markers studied present high genetic diversities, similar to those previously reported in other European population samples. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS101 locus. Allele frequencies and parameters of forensic interest for each X-STR were calculated. High mean exclusion chance and power of discrimination values were obtained by combining these 10 X-linked markers. Population comparisons (exact test of population differentiation; pairwise genetic distances) were carried out and low genetic distances were found between our sample and those from other Spanish or European regions.     

Genetic population data of 38 autosomal InDels for the Amerindian community Embera-Chami of Lapo,Antioquia-Colombia

This paper presents the genetic characterization of the Embera-Chami Amerindian community of Lapo-Antioquia-Colombia using 38 autosomal Indels. This group of markers showed a high discriminatory power (>99.9999%) and an appropriate power of exclusion (99.40%), allowing the use of these markers in the field of forensic genetics in this population.