How Do Geneticists and Genetic Counselors Counsel Women from High-Risk Breast Cancer Families?

This qualitative study asked Australian Genetic Counselors and Clinical Geneticists working in cancer genetics to describe their practice when a woman attends a consultation about her family history and her risk of developing breast cancer. Twenty-nine out of 36 Clinical Geneticists/Genetic Counselors returned the questionnaire (82%). Participants identified the key goals of the consultation as (a) identifying the individual needs and concerns of the woman, (b) providing information on genes and chromosomes, (c) giving an individual risk assessment in the context of supportive interaction, and (d) discussing the pros and cons of genetic testing and putting a surveillance plan into place. Respondents emphasized the dual importance of counseling/support and information provision in this setting, suggesting that one could not be given without the other. Implications for clinical practice are discussed.     

Perceived Genetic Risks for Bipolar Disorder in a Patient Population: An Exploratory Study

Thirty-one subjects with bipolar illness completed a questionnaire about genetic risk for bipolar disorder. Subjects estimated both quantitative and qualitative genetic risk for bipolar disorder for the following categories: general population, siblings, parents, spouses, and children. Results showed that quantitative risks were inflated when compared to qualitative risks and that subjects routinely overestimated the risk for developing bipolar illness. These findings suggest that genetic counseling may be useful for this population.     

Writing Effective Insurance Justification Letters for Cancer Genetic Testing: A Streamlined Approach

The topic of insurance coverage and justification letters for cancer predisposition testing has been the subject of much discussion on the National Society of Genetic Counselors Cancer Special Interest Group (NSGC Cancer-SIG) listserv. Some counselors have stated that they have had difficulty in obtaining insurance coverage for their patients, while others have indicated that they would appreciate seeing examples of successful letters. The purpose of this paper is to provide practical guidance in writing successful letters of justification and to share insurance success stories in the area of cancer genetic testing.     

Case Report: Depression vs. Early-Onset Alzheimer Disease: The Genetic Counselor's Role

Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early-onset familial Alzheimer disease (EOFAD). The genetic counselor is in a unique position to recognize depression as the cause of symptoms mimicking early-onset Alzheimer disease. While generating a family medical history, the counselor can evoke significant emotional history as well. Based on this information, appropriate referrals can be given for neurological and psychological evaluation. The counselor also serves to explain EOFAD and the benefits and limitations of genetic testing for each individual patient. Whether or not patients choose testing, they can benefit from correct diagnosis of troublesome, or even debilitating, symptoms that imitate symptoms of the feared hereditary disease.     

The Privacy of Tutankhamen – Utilising The Genetic Information In Stored Tissue Samples

Recent technical developments in genetictesting has led to a situation where the DNA inpreviously stored tissue samples can beextracted and used for genetic analysis. Thisraises the question of how to decide whether aspecific use of such samples should be allowed.Using the genetic testing of ancient DNA ingeneral, and the DNA of the pharaoh Tutankhamenin particular as examples this paper analysesthe question. It investigates whether ethicalframeworks based on proxy consent, culturalaffiliation, ownership, or the privacy rightsof the dead are appropriate and justifiable inthis context. The conclusion is that frameworksbased on proxy consent, cultural affiliation,and ownership are not very useful.     

Psychosocial Impact of Predictive Testing for Illness on Children and Families: Challenges for a New Millennium

Predictive testing for adult- and child-onset diseases is becoming widely available. The identification of individuals prone to develop certain illnesses is often medically advantageous in that it may afford opportunities to engage in risk reduction behaviors to detect or delay disease onset. However, sometimes the knowledge gained from these tests can be ambiguous, generate distress, and potentially affect several generations of family members. Overall, these factors create a challenging set of circumstances for persons considering genetic and other forms of predictive testing, particularly parents and children. In this article, we (1) address conceptual issues involved in determining the impact of predictive testing on child and family well-being, (2) review empirical data on this topic, and (3) provide a case example to illustrate these findings. Recommendations are made for additional psychological research on child- and family-focused outcomes associated with participation in testing, highlighting their clinical implications.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

Reviews

Books reviewed: Science and Theology: An Introduction, by JohnPolkinghorne Genesis, Genes, and God: Values and Their Origins in Naturaland Human History, by Holmes Rolston, III Playing God? Genetic Determinism and Human Freedom, by Ted Peters Green Space, Green Time: The Way of Science, by Connie Barlow Reconstructing Nature: The Engagement of Science and Religion , by John Brooke and GeoffreyCantor Whatever Happened to the Soul? Scientific and Theological Portraits ofHuman Nature, Edited by Warren S. Brown, Nancey Murphy, and H.Newton Malony The Turn of the Millennium: An Agenda for Christian Religion in an Age of Science, by Jeffrey G. Sobosan God without the Supernatural: A Defense of Scientific Theism, by Peter Forrest Religion and Creation, by Keith Ward     

The nature (and nurture) of personality disorders

Personality disorders have a long history in the literature but a short scientific history. The point prevalence of personality disorders is 10%, but the lifetime prevalence is probably 30–40%. Genetic factors contribute to around 40–50% of the variation in the development of personality disorders. The effect of shared environment is very small or non‐existent. Some researchers have tried to promote gene‐environment interaction. However, in reality, the studies investigated gene‐situation interaction, as the “environment” may in reality be partly of a genetic nature. Thus, we are dealing with an unknown part of gene‐gene interaction. Gene‐experience (not gene‐environment) correlations are the rule in human life. Personality disorders co‐occur (are comorbid) with symptom disorders (Axis I) and correlate with common personality dimensions. Possibly, the concept of personality disorder could merge with dysfunctional personality types. But it is likely that the concept will survive on its own.     

代谢综合征与遗传

代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A／C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。