Susan Pauker

Bio: Susan Pauker is an academic researcher. The author has contributed to research in topics: Public health & Health care. The author has an hindex of 1, co-authored 1 publications receiving 83 citations.

The new genetics. Implications for clinical services in Britain and the United States.

Abstract: This is the third of four articles discussing the broader implications of advances in genetics Meeting the rising demand for genetic information and advice will require a major reorganisation of genetic services. In the United States, demand has led to the growth of private genetics services that are marketed directly to the public. In the United Kingdom, specialist genetic services are struggling to cope with increased workloads and it is acknowledged that some genetics services will have to be incorporated into mainstream clinical medicine, particularly at primary care level. A range of pilot schemes has been set up to establish how to do this, but few schemes have been fully evaluated. A broad educational effort is needed to increase awareness of the scope and potential of genetic information among health professionals and the public. This article reviews current developments and argues that contrasting approaches in Britain and the United States each offer special opportunities in innovation and evaluation. #### Summary points Advances in genetics underpin the need to equip primary care teams with skills to assess genetic risk of disease, discuss the implications of gene testing, and control access to specialist services Involvement of primary care teams will vary with public awareness and uptake of tests, type and prevalence of disorder, precision of genetic tests, and therapeutic choices available Despite increasing availability of genetic tests, it is premature to offer population screening for genetic predisposition (such as to breast cancer), and even the case for screening carriers for cystic fibrosis through primary care is uncertain Different cultures of American and British health care may lead to faster innovation in United States but greater opportunity for development within a research framework in Britain The organisation of genetic services in the United Kingdom is currently based on regional centres. These mainly deal with relatively uncommon …

Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis.

Abstract: Background: Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of genetic counseling for familial cancer. Methods: Six electronic databases were searched to identify controlled trials and prospective studies that examined the effect of genetic counseling on risk perception, knowledge, anxiety, cancer-specific worry, depression, and cancer surveillance. Twenty-one studies from 25 papers met inclusion criteria, including five controlled trials and 16 prospective studies. Analysis of each outcome was stratified by short-term (≤1 month) and long-term (≥3 months) follow-up. Trial evidence was assessed with standardized differences of the means at follow-up between intervention and comparison groups, and these data were pooled by use of random-effects meta-analysis. Results: Meta-analysis of controlled trials showed that genetic counseling improved knowledge of cancer genetics (pooled short-term difference=0.70 U, 95% confidence interval (CI)=0.15 to 1.26 U) but did not alter the level of perceived risk (pooled short-term difference=−0.10 U, 95% CI=−0.23–0.04 U). Prospective studies reported improvements in the accuracy of perceived risk. No effect was observed in controlled trials on general anxiety (pooled long-term effect=0.05 U, 95% CI=−0.21–0.31 U) or cancer-specific worry (pooled long-term difference=−0.14 U, 95% CI=−0.35–0.06 U), although several prospective studies demonstrated short-term reductions in these outcomes. Few studies examined cancer surveillance behaviors, and no studies attempted to measure informed choice.Conclusions: Genetic counseling for familial cancer is associated with improvement in knowledge but does not have an adverse effect on affective outcomes. We urge further investigation of these findings through well-designed, well-reported, randomized controlled trials with suitable comparison groups and additional outcome measures [J Natl Cancer Inst 2004; 96:122–33].

The 'new genetics' and primary care: GPs' views on their role and their educational needs.

Abstract: BACKGROUND Given the limited specialist resources available to cope with the rising demand for genetic services, it has been proposed that at least some of these services are provided by primary care in the future. OBJECTIVE We aimed to explore GPs' attitudes towards new developments in genetics, to establish the role they envisage for primary care and to clearly define the education, information and training needed to support them in this role. METHODS We carried out a qualitative study with GPs using four focus groups (26 GPs) and 15 individual semi-structured interviews. RESULTS GPs perceive genetics as an important and increasingly relevant topic for primary care. Views on the appropriate level of involvement for primary care are mixed. GPs currently lack the relevant knowledge and skills to manage patients concerned about their family history. Other potential barriers to increasing primary care involvement included the time and costs involved, and ethical and legal concerns. CONCLUSION If primary care is to become more involved in the delivery of genetic services in the future, then a major educational effort is required to raise awareness of the potential scope and limitations of new developments.

Does knowledge make a difference? The association between knowledge about genes and attitudes toward gene tests.

Abstract: A survey was conducted (n = 1,216) to evaluate the level of knowledge about basic facts of genetics and attitudes toward gene tests among the Finnish population. Our results show that a majority of the Finnish population generally approved of gene tests. Well over half of the respondents believed that genetic testing will have positive consequences, but many also had worries related to the development of gene tests. We showed that there was an association between knowledge and attitudes, but better knowledge did not simply lead to unambiguous acceptance. Among those with the highest level of knowledge there was in many respects both more enthusiasm and more skepticism than among those with the lowest level of knowledge. Those with a low level of knowledge had more difficulties in taking a stance toward attitude statements. In general, steps should be taken, first, to increase citizens' capabilities to seek and understand information about genetics and specific diseases when faced with a need for it. Second, steps should be taken to provide citizens with tools to perceive and discuss potential ethical and social problems, which development of gene technology, genetic testing, and screening bring along. Sites for these enterprises could be the biology school curriculum, genetic counseling, media, as well as health education and health communication in general.

Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis

Abstract: Background: Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease. We conducted a systematic review of the literature to determine the quality and strength of evidence relating to psychological outcomes of genetic counseling for familial cancer. Methods: Six electronic databases were searched to identify controlled trials and prospective studies that examined the effect of genetic counseling on risk perception, knowledge, anxiety, cancer-specific worry, depression, and cancer surveillance. Twenty-one studies from 25 papers met inclusion criteria, including five controlled trials and 16 prospective studies. Analysis of each outcome was stratified by short-term (≤1 month) and long-term (≥3 months) follow-up. Trial evidence was assessed with standardized differences of the means at follow-up between intervention and comparison groups, and these data were pooled by use of random-effects meta-analysis. Results: Meta-analysis of controlled trials showed that genetic counseling improved knowledge of cancer genetics (pooled short-term difference = 0.70 U, 95% confidence interval [CI] = 0.15 to 1.26 U) but did not alter the level of perceived risk (pooled short-term difference = -0.10 U, 95% CI = -0.23 to 0.04 U). Prospective studies reported improvements in the accuracy of perceived risk. No effect was observed in controlled trials on general anxiety (pooled long-term effect = 0.05 U, 95% CI = -0.21 to 0.31 U) or cancer-specific worry (pooled long-term difference = -0.14 U, 95% CI = -0.35 to 0.06 U), although several prospective studies demonstrated short-term reductions in these outcomes. Few studies examined cancer surveillance behaviors, and no studies attempted to measure informed choice. Conclusions: Genetic counseling for familial cancer is associated with improvement in knowledge but does not have an adverse effect on affective outcomes. We urge further investigation of these findings through well-designed, well-reported, randomized controlled trials with suitable comparison groups and additional outcome measures.

Computer support for interpreting family histories of breast and ovarian cancer in primary care: comparative study with simulated cases

Abstract: Objectives: To evaluate the potential effect of computer support on general practitioners9 management of familial breast and ovarian cancer, and to compare the effectiveness of two different types of computer program. Design: Crossover experiment with balanced block design. Participants: Of a random sample of 100 general practitioners from Buckinghamshire who were invited, 41 agreed to participate. From these, 36 were selected for a fully balanced study. Interventions: Doctors managed 18 simulated cases: 6 with computerised decision support system Risk Assessment in Genetics (RAGs), 6 with Cyrillic (an established pedigree drawing program designed for clinical geneticists), and 6 with pen and paper. Main outcome measures: Number of appropriate management decisions made (maximum 6), mean time taken to reach a decision, number of pedigrees accurately drawn (maximum 6). Secondary measures were method of support preferred for particular aspects of managing family histories of cancer; importance of specific information on cancer genetics that might be provided by an “ideal computer program.” Results: RAGs resulted in significantly more appropriate management decisions (median 6) than either Cyrillic (median 3) or pen and paper (median 3); median difference between RAGs and Cyrillic 2.5 (95% confidence interval 2.0 to 3.0; P Conclusions: RAGs could enable general practitioners to be more effective gatekeepers to genetics services, empowering them to reassure the majority of patients with a family history of breast and ovarian cancer who are not at increased genetic risk.