DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paper

In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001.     

Factors Influencing Men's Interest in Gene Testing for Prostate Cancer Susceptibility

Interest in genetic testing for inherited cancer susceptibility is high in the general population. Women at risk for BRCA1 and BRCA2 mutations represent the best-studied population undergoing genetic testing for cancer susceptibility. However, it is unclear whether factors influencing interest in genetic testing in women are directly applicable to men. We designed a study to examine factors associated with men's interest in genetic testing to identify prostate cancer susceptibility. Our sample consisted of 267 men present in waiting rooms of a urology clinic in an urban area. We examined whether the concept of monitoring could be used to predict the interest of men in a genetic test for prostate cancer susceptibility. Our results indicated that monitoring trait was positively associated with interest in genetic testing in these men, but principally for patients rather than nonpatients. Moreover we found that monitoring was associated with over estimation of risk in those men with prostate cancer. Other factors found to influence interest in genetic testing included recommendation by a doctor, family history of prostate cancer, and cost. This study indicated that interest in genetic testing and estimation of risk is influenced by a complex interaction between both psychological factors (monitoring) and nonbehavioral factors (such as patient status, cost, and doctor recommendation).     

Conflict of interest in medical research in Estonia

An area where conflicts of interest can take place in Estonia is in the conduct of clinical trials. The paper lists the main areas where such conflicts of interest can occur. The author also briefly discusses Estonia’s current position with regard to regulating genetic information and the commencement of the Estonian Genome Project. An earlier version of this paper was presented at an International Conference on “Conflict of Interest and its Significance in Science and Medicine” held in Warsaw, Poland on 5–6 April, 2002.     

A Qualitative Investigation of Somali Immigrant Perceptions of Disability: Implications for Genetic Counseling

This study examined the potential utility of genetic counseling services for Somali immigrants by investigating their perceptions of disability. Five Somali women participated in structured interviews that assessed their perceptions of the nature, causes, and impact of disability, and care for persons with disabilities. Using a Heideggerian Hermeneutics qualitative method of analysis, six major themes emerged: (1) disability refers to both physical and mental conditions, with mental disability generally thought of first and as more severe; (2) in Somalia, the family cares for disabled family members, treating them as if they were normal (3) there are major cultural differences between Somalia and the United States in how persons with disabilities are treated; (4) caring for a person with a disability is stressful for the family; (5) Allah determines whether or not a child will be disabled, and this cannot be predicted or altered; and (6) family is the primary life focus, and therefore, risk of disability does not affect reproductive decisions. These themes suggest that traditional genetic counseling may have limited utility for Somali immigrants. We recommend several modifications to traditional genetic counseling for Somali patients that also may be useful for populations that have similar beliefs.     

人类基因组研究与遗传学的历史教训

第１８届国际遗传学大会达成的八点共识对于人类基因组的研究及其应用具有重要意义,也指明了在遗传学及其应用问题上不同文化之间如何解决它们之间分歧的最佳途径。纳粹德国的优生实践和前苏联李森科学派的兴衰都给我们留下了不可忘记的教训。围绕中国母婴保健法的争论反映了科学、伦理和政策的交叉。我们的基因组研究和遗传服务是为了增进个人的健康和促进家庭的幸福,而不能也不应以减少残疾人口为目标。在基因组研究和遗传服务中     

Multifamily interventions in the context of inherited genetic conditions: A scoping review

This scoping review sought to examine the existing literature on multifamily interventions with families dealing with inherited genetic conditions. It also seeks to identify gaps in the evidence to help guide future research and intervention development. Four databases (PubMed, Web of Sciences, Scopus and PsycInfo) were systematically searched and analysed, resulting in five publications for inclusion. The main findings evidence two main themes: characteristics of multifamily interventions, and evaluation of the intervention and impact on participants. These findings suggest that multifamily interventions can provide families with extended support beyond the care usually offered by genetic healthcare services and contribute to enhancing positive change in key aspects of adaptation and coping with an inherited genetic conditions. Multifamily discussion groups are a methodology that is particularly suitable when working with families in this context. Collaboration between genetic healthcare services and accredited systemic family therapists is required to sustain the implementation of multifamily discussion groups and their feasibility. Research on the effectiveness, feasibility and economic viability of multifamily interventions is also needed.     

Serotonin transporter and BDNF polymorphisms interact to predict trait worry

Background and Objectives: Excessive worry is associated with a range of psychological disorders. While previous studies have examined genes associated with a range of different anxiety phenotypes, none have explored genes specifically associated with the general tendency to worry. Design: The present study tested associations between trait worry and functional polymorphisms of three candidate genes: the serotonin transporter-linked polymorphic region (5-HTTLPR) of the SLC6A4 gene, the Val66Met region of the brain-derived neurotrophic factor (BDNF) gene, and the Val158Met region of the catechol-O-methyltransferase (COMT) gene. Methods: A heterogeneous sample of adult participants (n = 173) completed the Penn State Worry Questionnaire (PSWQ) and provided DNA samples for genotyping. Results: Results revealed a significant interaction between 5-HTTLPR and BDNF genotypes predicting levels of worry. Specifically, there was a significant positive association between 5-HTTLPR short alleles and PSWQ scores, but only in BDNF met allele carriers. COMT genotype was not significantly associated levels of worry, nor did COMT interact with 5-HTTLPR or BDNF genotypes to predict PSWQ scores. Conclusions: These findings provide preliminary evidence about the putative genetic etiology of worrying. Key limitations of the present study and corresponding directions for future research on this topic are discussed.     

抑郁遗传效应的发展动态性

抑郁的遗传效应存在发展动态性。一方面,在发展过程中,抑郁的遗传率会发生改变,抑郁的风险基因及其与环境的交互作用模式也存在动态变化。另一方面,遗传因素会影响抑郁的发展变化模式。通过梳理既有相关研究,本文从生理成熟因素、表观遗传和发展级联效应三方面分析抑郁遗传效应发展动态性的原因。未来研究应区分重要发展阶段,增加脑功能、性激素、神经生物蛋白以及表观遗传等指标考察抑郁遗传效应的变化模式及其发生机制。     

Strange Affinities in the Search for Personalized Health: New Age Practices and Genetic Testing

A prominent focus of New Age beliefs and practices has always been health and healing—including the use of holistic healing, power crystals, homeopathy, and complementary and alternative medicine. Given its association with modern science and medicine, genetic testing would seem to run counter to New Age alternative medical practices. On the other hand, the use of at-home genetic health tests and the use of such New Age alternative medical practices could both be motivated by a desire for personalized healthcare. Using data generated from a survey fielded on a probability sample of U.S. adults, we examine associations between individuals’ use of at-home genetic health tests and their use of power crystals and acupuncture or other homeopathic medicine. Logistic regression models find that those who use power crystals or homeopathic medicine have significantly greater odds of having used an at-home genetic health test. We discuss the implications of these findings for our understanding of the direct-to-consumer genetic testing market and the relationship between science, religion, and spirituality more broadly.