Acceptance Of Genetic Testing Research Articles

Abstract PO4-08-05: Disparities in Genetic Testing Patterns and Positivity Among Patients with Breast Cancer in the CancerLINQ Real-World Oncology Database

Abstract Introduction: Indications for hereditary genetic testing (GT) continue to expand among breast cancer patients (pts), with some guidelines suggesting offering germline GT to all pts diagnosed with breast cancer. The objective of this study was to explore patterns of germline GT and prevalence of pathogenic and likely pathogenic variant (PV) frequency by age, sex, race and ethnicity, and stage at diagnosis within a large, real world oncology database. Methods: The American Clinical Society for Oncology CancerLINQ Discovery breast dataset was used to identify pts with a stage 0-III breast cancer diagnosis who underwent breast surgery at initial diagnosis from 1990-2022. Genetic testing was identified as an available test result from at least one of the following genes: BRCA1/2, ATM, CHEK2, PALB2, TP53, BARD1, BRIP1, CDH1, MHL1, MSH2, MSH6, NF1, RAD51C, or RAD51D. Descriptive statistics were used for comparisons, and adjusted multivariable regression predicting receipt of GT was performed. Results: Overall, 76,978 pts with breast cancer were identified. Of these, 16,284 (21.1%) underwent GT. There were differences in the proportion of pts that underwent GT by age, sex, self-reported race and ethnicity, and stage at diagnosis (Table). Genetic testing decreased with increasing age (59.2% in < 40 vs 7.5% in >=70, p< 0.001) and was more common in men (45.9% vs 21.1% of women, p< 0.001). Genetic testing rates ranged from 18.1-27.7% by race and ethnicity (p< 0.001), with the lowest rates in Non-Hispanic Black (18.1%) and American Indian/Alaskan Native pts (18.2%) and the highest rate in Hispanic pts (27.7%). Genetic testing also differed by stage at diagnosis, with 19.3% of stage I pts vs 25.7% of stage III pts having genetic testing (p< 0.001). On multivariable analysis adjusted for age, sex, race and ethnicity, and stage, male sex was associated with increased likelihood of GT (OR 5.12, 95% CI 4.04-6.49 compared to female sex, p< 0.001) while increasing age (OR 0.05, 95% CI 0.04-0.06 in age >=70 compared to age < 40, p< 0.001) and Non-Hispanic Black or American Indian/Alaskan Native race and ethnicity were associated with decreased likelihood of GT (OR 0.69, 95% CI 0.65-0.73 for Non-Hispanic Black and OR 0.71, 95% CI 0.50-1.00 for American Indian/Alaskan Native pts, compared to Non-Hispanic White pts, p< 0.001); stage was not independently associated with GT. Among those that had GT, PVs were detected in 2,974 (18.3%) pts. PVs were more common in pts < 40 years (27.3% vs 15.0-17.6% in pts >=40, p< 0.001) and in men (26.4% vs 18.2% in women, p< 0.001). Compared by race and ethnicity, PVs were highest among American Indian/Alaskan Native patients (30.2%) and lowest in Non-Hispanic White and Asian/Pacific Islander patients (18.6% and 17.0%, respectively, p< 0.001). There was also a higher prevalence PVs with increasing stage (16.5% for stage 0 and 23.8% for stage III, p< 0.001). Among those with PVs, the distribution was as follows: BRCA1 n=937 (31.5%), BRCA2 n=1176 (39.5%), TP53 n=315 (10.6%), CHEK2 n=238 (8.0%), ATM n=214 (7.2%), and PALB2 n=200 (6.7%). Conclusions: Differences in patterns of GT and PV frequency by age, sex, race and ethnicity, and stage were prevalent. Importantly, despite lower rates of GT, PV frequencies were similar or higher among minority patients and similar among all pts aged 40 and older. Inclusive testing practices and expansion of genetic testing coverage are needed to work towards equitable access to and acceptance of genetic testing. Table. Genetic Testing And Positivity Rates Citation Format: Olga Kantor, Alyssa Jones, Brittany Bychkovsky, Alison Laws, Anna Weiss, Huma Rana, Judy Garber, Rochelle Scheib, Marianna Chavez, Erica Mayer, Tari King, Elizabeth Mittendorf. Disparities in Genetic Testing Patterns and Positivity Among Patients with Breast Cancer in the CancerLINQ Real-World Oncology Database [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-08-05.

Acceptability and Feasibility of Genetic Testing to Assess Risk of HIV-Associated Neurocognitive Impairment Among Thai Adolescents and Young Adults.

Host genetic factors may modify the risk of developing HIV-associated neurocognitive impairment (HIV-NCI), and genetic research has the potential to inform novel treatments for HIV-NCI. However, there is a need to better understand the acceptability of genetic testing among distinct populations of people living with HIV at increased risk for HIV-NCI, such as young people living with perinatally acquired HIV (PHIV) in low- and middle-income countries, to gauge the feasibility of genetic research within these populations. This pilot study evaluated the acceptability and feasibility of genetic testing to assess risk of future neurocognitive problems in 50 Thai adolescents and young adults (13-24 years; Meanage = 19.16 [standard deviation = 3.09]; 52% female) with PHIV and demographically similar HIV-negative controls. Participants (25 PHIV; 25 controls) completed a survey assessing acceptability of and concerns about genetic testing and were asked to provide blood samples for genetic testing. Descriptive statistics and blood draw completion rates were produced and calculated. Reported concerns about genetic testing were grouped thematically and tallied. Independent t tests and chi-squares explored demographic differences between participants who reported concerns and peers. Results indicated 46 participants (92%) rated genetic testing as "acceptable" or "completely acceptable." Eight participants (16%) reported concerns about genetic testing. The most common concerns were related to genetic information being shared or misused. Compared with participants without concerns, participants who reported concerns had more years of education and were more likely to have postsecondary schooling. Regarding completion rates, 49 participants (98%) agreed to genetic testing and provided blood samples. Overall, results support the acceptability and feasibility of incorporating genetic testing into research investigating HIV-NCI among adolescents and young adults in Thailand. Findings provide important considerations for planning future genetic studies among young people in Thailand.

Differential willingness for genetic testing to target treatment in older Danish citizens

Abstract Background Studies from different countries have shown that population majorities are willing to accept genetic tests for treatment personalisation and that considerable proportions are ready to donate their data to research. However, it has also been shown that concerns, for example about data use and confidentiality or treatment rationing, are common. To enable a more targeted communication process with the public about personalized medicine, more knowledge is needed on views in different sub-populations. In the present study, a hypothetical scenario was used to investigate differential readiness to accept a genetic test for treatment targeting and to permit use of personal data for research. Methods A cross-sectional survey was conducted with 50-80-year-old Danish citizens (n = 6807) who were sampled to represent the Danish population in that age segment. Socio-demographic data were added from a national registry. Data were analyzed by multivariable logistic regression analysis. Results Preliminary results showed that a majority was willing to be tested (78.3%). Readiness was lower in women [OR = .67; CI = .59-.77] and those 70-80 [OR = .72; CI = 61-.86], while it was higher in those with better income [OR = 1.29; CI = 1.09-1.52]. Further, those less satisfied with their health, the obese and those with a perceived genetic vulnerability were more willing to be tested. Over 90% of those ready to be tested were also willing to permit use of their data for research. Rates were higher in men, older segments, those with higher income/education as well as those with current pain experience and those aware of a personal genetic vulnerability. Conclusions Findings indicate group differences in acceptance of a genetic test for personalisation of medicine and data use for research. Further research should investigate group-specific benefit perceptions versus concerns in population subgroups to inform implementation and enable targeted communication strategies. Key messages • Acceptance of genetic testing for personalisation of treatment as well as willingness to contribute data to research may differ between population subgroups. • Women and those with lower income are less willing to accept genetic testing for treatment personalisation and accept research use of data while health vulnerabilities increase acceptance.

A clinical study of genetic testing to guide the dosing of warfarin after heart valve replacement

ObjectiveTo explore the role of genetic testing of VKORC1 and CYP2C9 in determining the dosage of warfarin after aortic valve replacement.MethodsA total of 172 patients receiving warfarin after aortic valve replacement were divided into a control group (n = 86) and an experimental (n = 86) group based on acceptance of genetic testing. In the experimental group, three loci of VKORC1 and CYP2C9 were tested by polymerase chain reaction-restriction fragment length polymorphism technique, and the initial dose of warfarin was determined based on the genetic testing results and warfarin oral-dose table recommended by U.S. Food and Drug Administration (FDA). In the control group, warfarin (3 mg per night) was used as the initial dose. The international normalized ratio (INR) of each patient was continuously monitored after medication. The percentages of patients meeting the target INR in the two groups at specific time points and at 3-month follow-up after discharge from the hospital were monitored, and the incidence of various adverse events was compared between the groups.ResultsBased on the results of genetic testing, 68 patients received 3–4 mg/d (79.1%), 10 patients received 0.5–2 mg/d (11.6%), and eight patients received 5–7 mg/d (9.3%) as the initial dosages of warfarin in the experimental group. The percentages of the patients meeting the target INR on the third and sixth day of postoperative medication were 45.3% and 73.3%, respectively, in the experimental group, and 29.8% and 58.3%, respectively, in the control group. The INR critical values during hospitalization occurred in 2.3% in the experimental group and in 7.1% in the control group, while the percentage of the patients meeting the target INR after 3 months was 86.1% in the experimental group and 83.1% in the control group.ConclusionGenetic testing may guide the selection of the initial dose of warfarin after heart valve replacement to rapidly achieve a stable dose.

The impact of counseling indications in the decision-making process regarding second trimester prenatal genetic testing of pregnant women

Objective: The reasons for prenatal genetic test counseling were changed over the years due to the introducing new and complex screening protocols into clinical use to determine the risk of fetal chromosomal abnormalities. The aim of this study is to investigate the effects of changing new counseling reasons on the decisions about having invasive testing of patients who are given genetic diagnosis counseling in the second trimester. 
 Method: This retrospective study, in one-year period, was conducted on patients who received consultancy on second trimester prenatal diagnostic testing in the fetal-maternal medicine department of Ankara City Hospital, Turkey. Counselling indications for genetic testing and patients' attitudes regarding invasive procedure after counseling were evaluated.
 Results: During the study period, 1338 patients were given prenatal genetic test counseling in the second trimester, and amniocentesis was performed for 297 of them (22.2%). The most common indications for genetic testing were abnormal ultrasound scan results (26.5%) and aneuploidy soft markers (23.8%). The highest acceptance rate was found in patients who received counseling due to abnormal screening test results in the first trimester (44.1%). While 211 (30.8%) of high-risk pregnancies underwent amniocentesis, the rate of having amniocentesis in low-risk pregnancies was 13.2% and the difference between amniocentesis acceptance rates was significant
 Conclusion: The differences in the risk criteria and risk level that require prenatal genetic diagnosis may affect the decision-making processes regarding the acceptance of genetic testing in patients who receive prenatal genetic counseling in the second trimester.

Hereditary diffuse gastric cancer: updated clinical practice guidelines.

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.

P1107First results of molecular autopsy examinations in sudden cardiac death drawn from nationwide multidisciplinary and multicentric collaboration in the Czech Republic

Abstract Funding Acknowledgements Supported by Ministry of Health of the Czech Republic, grant nr. NV18-02-00237. All rights reserved." Introduction "Molecular autopsy" in sudden cardiac death (SCD) is an important diagnostic tool for primary prevention of cardiac arrest in victim´s relatives and requires multicentric and multidisciplinary collaboration. Purpose To establish a national network for SCD diagnostics, to assess the acceptance of genetic testing in at risk relatives and to elucidate the genetic etiology of SCD in a representative Czech cohort aged below 45 years. Patients and Methods Between 2016 and 2019 we ascertained 70 SCD (50 M / 20 F), with positive family history for cardiac arrest in 8/70 cases. Only one family did not agree with molecular autopsy. Genetic counselling and cardiological screening examination was carried out in first degree relatives of SCD survivors accompanied by custom-made targeted panel massively parallel DNA sequencing comprising 100 cardiac conditions-related genes. Presence of pathogenic variants was validated by Sanger DNA sequencing and through family segregation analyses. Results According to post-mortem diagnosis most victims died of HCM (17/70), ACM (16/70), no structural heart disease was found in 15/70 cases, DCM/LVNC in 9/70, 6/70 were SIDS cases, other rare diagnoses comprised aortic dissection, or myocarditis. Most of victims died at sleep, only 9/70 victims died during strenuous activities. About 50% of SCD victims did not have cardiac complaints before death. Very likely or certain molecular etiology (i.e. based on presence of ACMG.net Class 4 to 5 variants) was disclosed in 12/70 (17%) in RYR2, FLNC, TTN, KCNH2 and KCNQ1 genes, whilst potentially causative DNA variants (Classes 3-4) were observed in 13/70 (18%) cases. In SIDS we did not find any pathogenic variants. Interestingly, the KCNE1 p.Asp85Asn (LQT 5 lite) variant, was detected in 3/70 cases as a recognized risk factor for ventricular arrhythmias. Conclusion The multidisciplinary cooperation in Czech Republic has been established, family survivors are willing to receive genetic and cardiological care, while centralised molecular genetic analysis enables reliable results which are in accordance with other multicentric studies. The molecular autopsy should, especially in SIDS, be expanded to whole exome sequencing.

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry

Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care. The objective of the study was to determine the uptake of genetic testing with cost and privacy removed. The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening. Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52years) received genetic testing. Of the participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only 3 first-degrees relatives underwent genetic testing. Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.

Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology.

Despite advances in our understanding of heritable lipid disorders and the availability of highly effective lipid-lowering drugs, the awareness, detection, and control of familial hypercholesterolemia (FH) remain suboptimal. 1 A major reason for the low detection rate in the United States is the lack of a widely accepted screening strategy, despite the recommendations for universal or targeted lipid screening by several expert panels. Although the use of universal lipid screening remains a matter of debate, cascade screening (a form of targeted screening of family members of affected individuals) is acknowledged as the most cost-effective screening strategy for FH. In the Netherlands >26 000 new cases were identified over 2 decades by genotyping family members of FH probands, and it is estimated that genetic cascade screening, coupled with statin therapy for diagnosed patients, could save $92 million per year in the European Union. 1 Several factors lead to the low rates of cascade screening for FH in the United States. First, no nationwide strategy for the early detection of FH exists. Second, the low acceptance of genetic testing for FH in the United States is an impediment to unambiguous diagnosis and cascade screening. Third, patients and family members are often concerned about the stigma associated with genetic diagnoses. Fourth, because of the Health Insurance Portability and Accountability Act, disclosing the risk of genetic disease to family members can incur liability, even if this knowledge leads to early detection and treatment. Fifth, …

Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation.

Inherited mutations in deoxyribonucleic acid (DNA) mismatch repair (MMR) genes lead to an increased risk of colorectal cancer (CRC), gynaecological cancers and other cancers, known as Lynch syndrome (LS). Risk-reducing interventions can be offered to individuals with known LS-causing mutations. The mutations can be identified by comprehensive testing of the MMR genes, but this would be prohibitively expensive in the general population. Tumour-based tests - microsatellite instability (MSI) and MMR immunohistochemistry (IHC) - are used in CRC patients to identify individuals at high risk of LS for genetic testing. MLH1 (MutL homologue 1) promoter methylation and BRAF V600E testing can be conducted on tumour material to rule out certain sporadic cancers. To investigate whether testing for LS in CRC patients using MSI or IHC (with or without MLH1 promoter methylation testing and BRAF V600E testing) is clinically effective (in terms of identifying Lynch syndrome and improving outcomes for patients) and represents a cost-effective use of NHS resources. Systematic reviews were conducted of the published literature on diagnostic test accuracy studies of MSI and/or IHC testing for LS, end-to-end studies of screening for LS in CRC patients and economic evaluations of screening for LS in CRC patients. A model-based economic evaluation was conducted to extrapolate long-term outcomes from the results of the diagnostic test accuracy review. The model was extended from a model previously developed by the authors. Ten studies were identified that evaluated the diagnostic test accuracy of MSI and/or IHC testing for identifying LS in CRC patients. For MSI testing, sensitivity ranged from 66.7% to 100.0% and specificity ranged from 61.1% to 92.5%. For IHC, sensitivity ranged from 80.8% to 100.0% and specificity ranged from 80.5% to 91.9%. When tumours showing low levels of MSI were treated as a positive result, the sensitivity of MSI testing increased but specificity fell. No end-to-end studies of screening for LS in CRC patients were identified. Nine economic evaluations of screening for LS in CRC were identified. None of the included studies fully matched the decision problem and hence a new economic evaluation was required. The base-case results in the economic evaluation suggest that screening for LS in CRC patients using IHC, BRAF V600E and MLH1 promoter methylation testing would be cost-effective at a threshold of £20,000 per quality-adjusted life-year (QALY). The incremental cost-effectiveness ratio for this strategy was £11,008 per QALY compared with no screening. Screening without tumour tests is not predicted to be cost-effective. Most of the diagnostic test accuracy studies identified were rated as having a risk of bias or were conducted in unrepresentative samples. There was no direct evidence that screening improves long-term outcomes. No probabilistic sensitivity analysis was conducted. Systematic review evidence suggests that MSI- and IHC-based testing can be used to identify LS in CRC patients, although there was heterogeneity in the methods used in the studies identified and the results of the studies. There was no high-quality empirical evidence that screening improves long-term outcomes and so an evidence linkage approach using modelling was necessary. Key determinants of whether or not screening is cost-effective are the accuracy of tumour-based tests, CRC risk without surveillance, the number of relatives identified for cascade testing, colonoscopic surveillance effectiveness and the acceptance of genetic testing. Future work should investigate screening for more causes of hereditary CRC and screening for LS in endometrial cancer patients. This study is registered as PROSPERO CRD42016033879. The National Institute for Health Research Health Technology Assessment programme.

Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities.

Lynch syndrome (LS) is the most common heritable colorectal cancer (CRC) syndrome, accounting for approximately 3 % of CRC cases in the USA each year. LS results from a genetic mutation in one of the four mismatch repair genes, and clinically LS is associated with CRC and other gastrointestinal and extra-gastrointestinal malignancies. In this review, we describe the various clinical criteria utilized for the identification of LS patients and the inherent flaws with these criteria. We discuss the concept of universal testing for LS in all cases of newly diagnosed CRC, along with the potential benefits and challenges of universal testing. Several studies have shown that universal tumor testing is cost-effective and identifies cases of LS that are missed using traditional clinical criteria, which may result in reduced cancer mortality for probands and their families. Yet the full benefits of universal tumor testing may be limited by the availability and patient acceptance of genetic testing, and by logistical obstacles affecting the implementation of universal testing programs. Lastly, we comment on developing technologies such as massively parallel next-generation sequencing, which permits simultaneous sequencing of multiple genes involved in LS and other inherited colon cancer syndromes.

Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.

Understanding the perceptions of genetic testing by members of the deaf community may help in planning deafness genetics research, especially so in the context of strong adherence to cultural values as found among native Africans. Among Yorubas in Nigeria, deafness is perceived to be caused by some offensive actions of the mother during pregnancy, spiritual attack, and childhood infections. We studied attitudes towards, and acceptance of genetic testing by the deaf community in Nigeria. Structured questionnaires were administered to individuals sampled from the Vocational Training Centre for the Deaf, the religious Community, and government schools, among others. The main survey items elicited information about the community in which the deaf people participate, their awareness of genetic testing, whether or not they view genetic testing as acceptable, and their understanding of the purpose of genetic testing. There were 150 deaf participants (61.3 % males, 38.7 % females) with mean age of 26.7 years ±9.8. A majority of survey respondents indicated they relate only with other members of the deaf community (78 %) and reported believing genetic testing does more good than harm (79.3 %); 57 % expressed interest in genetic testing. Interest in genetic testing for deafness or in genetic testing in pregnancy was not related to whether respondents relate primarily to the deaf or to the hearing community. However, a significantly higher number of male respondents and respondents with low education reported interest in genetic testing.

Perceptions of genetic testing and genomic medicine among drug users

BackgroundGenetic testing will soon enter care for human immunodeficiency virus (HIV) and hepatitis C virus (HCV), and for addiction. There is a paucity of data on how to disseminate genetic testing into healthcare for marginalized populations. We explored drug users’ perceptions of genetic testing. MethodsSix focus groups were conducted with 34 drug users recruited from syringe exchange programmes and an HIV clinic between May and June 2012. Individual interviews were conducted with participants reporting previous genetic testing. ResultsAll participants expressed acceptance of genetic testing to improve care, but most had concerns regarding confidentiality and implications for law enforcement. Most expressed more comfort with genetic testing based on individual considerations rather than testing based on race/ethnicity. Participants expressed comfort with genetic testing in medical care rather than drug treatment settings and when specifically asked permission, with peer support, and given a clear rationale. ConclusionAlthough participants understood the potential value of genetic testing, concerns regarding breaches in confidentiality and discrimination may reduce testing willingness. Safeguards against these risks, peer support, and testing in medical settings based on individual factors and with clear rationales provided may be critical in efforts to promote acceptance of genetic testing among drug users.

The Right to an Open Future Concerning Genetic Information

There has been a discussion regarding the ethical acceptability of genetic testing of children for years, resulting in the majority view that minors should only be tested for early-onset disorders ...

An insight into the public acceptance of nutrigenomic-based personalised nutrition

It is predicted that non-communicable diseases will account for over 73% of global mortality in 2020. Given that the majority of these deaths occur in developed countries such as the UK, and that up to 80% of chronic disease could be prevented through improvements in diet and lifestyle, it is imperative that dietary guidelines and disease prevention strategies are reviewed in order to improve their efficacy. Since the completion of the human genome project our understanding of complex interactions between environmental factors such as diet and genes has progressed considerably, as has the potential to individualise diets using dietary, phenotypic and genotypic data. Thus, there is an ambition for dietary interventions to move away from population-based guidance towards 'personalised nutrition'. The present paper reviews current evidence for the public acceptance of genetic testing and personalised nutrition in disease prevention. Health and clear consumer benefits have been identified as key motivators in the uptake of genetic testing, with individuals reporting personal experience of disease, such as those with specific symptoms, being more willing to undergo genetic testing for the purpose of personalised nutrition. This greater perceived susceptibility to disease may also improve motivation to change behaviour which is a key barrier in the success of any nutrition intervention. Several consumer concerns have been identified in the literature which should be addressed before the introduction of a nutrigenomic-based personalised nutrition service. Future research should focus on the efficacy and implementation of nutrigenomic-based personalised nutrition.

Hereditary Hemochromatosis: Awareness and Genetic Testing Acceptability in Western Romania

a public health strategy to promote early diagnosis of hemochromatosis gene (HFE)-related hemochromatosis (HFE-HH) largely depends on people's acceptance of available screening tests. The present study aimed at evaluating patient awareness of HFE-HH and their acceptance of DNA testing in western Romania. a total of 221 participants were randomly recruited from the ambulatory unit of the Emergency County Hospital in Timisoara, Romania. They received brief information on HFE-HH and were assessed for the signs and symptoms of hemochromatosis. HFE genotyping was offered to all of them. Only two cases (0.9%) had previous knowledge of HFE-HH. Twenty-one cases (9.5%) underwent genetic testing. Characteristics associated with test acceptance were age <45 years, male gender, and educational attainment. Acceptance was associated with a desire to know if they had HFE-HH (85.7%). The most prevalent refusal reason was a desire for more information (41%). larger educational programs are required to increase people's awareness about HFE-HH in western Romania. Nevertheless, within health care settings, the importance of disease detection and patient's educational background appear to be essential for achieving high rates of participation in the genetic test.

Abstract A35: Mothers and daughters: A key to acceptability of genetic testing for breast cancer among Latina women

Abstract Background: Breast cancer is a devastating disease. Identification of the BRCA1 and BRCA2 genetic mutations associated with it offer a potentially efficacious “early warning system.” However, investigators have expressed doubt that whether women are interested in knowing if they possess gene mutations, particularly minorities traditionally averse to dealing with a complex medical system. Additionally, effective means of addressing different levels of motivation among ethnic groups are unidentified. Here we determine the extent of interest in genetic testing among Latinas compared to non-Hispanic white (NHW) women. We also identify factors associated with interest in genetic testing. Finally, we show why differences in interest in genetic testing for breast cancer exist among groups of women. Material and Methods: We surveyed 290 women (153 Hispanic, 137 NHW) aged 26+ drawn from the catchment area of the San Antonio Cancer Therapy and Research Center. Targeted surveys included demographic information, measures assessing breast cancer knowledge, attitudes, behaviors, and medical and family history data. Based on verbal report, participants were assigned “high” or “moderate/low” cancer risk status according to American College of Medical Genetics Foundation guidelines. Pearson chi-square and student's t-tests assessed bivariate relationships. Cochran Mantel-Haenszel chi-square identified analytic strata. Multivariate logistic regression revealed factors associated with interest in genetic testing. Results: 20% of women were not “very interested” in genetic testing for the BRCA1/BRCA2 mutation. Bivariate results showed ethnicity, use of nontraditional health care sources and negative perceptions of genetic testing were associated with low interest in genetic testing among all women. A multivariate model of genetic testing interest revealed several measures significantly associated with it, including Hispanic ethnicity (OR 5.74, p&amp;lt;.01), routine health care from any nontraditional source, and negative perception of genetic testing (both OR 1.19, p&amp;lt;.03). The Hispanic result reflected reduced interested in Genetic Testing, regardless cancer risk or having had cancer [Low-risk Latinas: 75.3% v 84.9% NHW (p&amp;lt;.05); High-risk Latinas 75.3% v 84.9% NHW (p&amp;lt;.05), Cochran Mantel-Haenszel (CMH) ns.], [NoHx of Cancer Latinas 75.6% v 90.2% p&amp;lt;.04, Hx Cancer Latinas 72.0% v 82.9%, p&amp;lt;.05, CMH ns.] Given this difference we stratified our analysis. In separate multivariate models we found that NHW women are not “very interested” in genetic testing when their perception of it is negative (OR 1.36, p&amp;lt;.01). Latinas are significantly more likely to be interested in genetic testing when their perceived risk of breast cancer is high (OR 2.38, p&amp;lt;.01), and importantly, when they have biological daughters (OR 7.85, p&amp;lt;.001). 77.8% of Latinas with biological daughters (n = 98) compared to 55.6% of those without (n = 61) were “very interested” in genetic testing for breast cancer (p&amp;lt;.001). Conclusion: Genetic testing is generally acceptable to NHW and Hispanic women. However, Latinas are less likely to accept it than NHW. Whereas NHW women are influenced in their decision chiefly by use of nontraditional sources of medical care, Latinas are strongly influenced by perceptions of personal risk and having biological daughters. Citation Information: Cancer Epidemiol Biomarkers Prev 2010;19(10 Suppl):A35.

Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): A questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available

BackgroundPaget's disease of bone (PDB) disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures. Genetic factors play a role in PDB and genetic tests are now conducted for research purposes. It is thus timely to investigate the potential for a clinical programme of genetic testing and preventative treatment for people who have a family history of PDB. This study examines the beliefs of relatives of people with PDB. It focuses particularly on illness and treatment representations as predictors of the acceptability and uptake of potential clinical programmes. Illness representations are examined using Leventhal's Common Sense Self-Regulation Model while cognitions about treatment behaviours (acceptance of testing and treatment uptake) are conceptualised within the Theory of Planned Behaviour.Methods/DesignA postal questionnaire of non-affected relatives of people with Paget's disease. The sample will include relatives of Paget's patients with a family history of Paget's disease and relatives of Paget's patients without a family history of Paget's disease. The questionnaire will explore whether a range of factors relate to acceptability of a programme of genetic testing and preventive treatment in relatives of Paget's disease sufferers. The questionnaire will include several measures: illness representations (as measured by the Brief Illness Perceptions Questionnaire); treatment representations (as measured by Theory of Planned Behaviour-based question items, informed by a prior interview elicitation study); descriptive and demographic details; and questions exploring family environment and beliefs of other important people.Data will also be collected from family members who have been diagnosed with Paget's disease to describe the disease presentation and its distribution within a family.DiscussionThe answers to these measures will inform the feasibility of a programme of genetic testing and preventive treatment for individuals who are at a high risk of developing Paget's disease because they carry an appropriate genetic mutation. They will also contribute to theoretical and empirical approaches to predicting diagnostic and treatment behaviours from the combined theoretical models.

Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease

PurposeThe Health Belief Model can help in understanding low acceptance of disease prevention and screening. We studied health beliefs of African American women to determine causes of low acceptance of genetic testing and counseling despite high prevalence of sickle cell disease and heterozygotes in this population. MethodsAn anonymous questionnaire using a 12-question measure with a 5-point Likert scale response was administered to 101 African American women attending an obstetrics and gynecology clinic to determine knowledge of sickle cell disease, perception of risk, severity, likelihood of benefit and barriers to counseling. ResultsThe cumulative mean perceived scores on the 5-point Likert scale were 4.22±0.88 for severity of sickle cell disease, 4.10±1.03 for benefit of genetic testing, 2.28±1.00 for barriers to testing, and 2.62±1.06 for risk of having a child with sickle cell disease. High average level knowledge was associated with high perception of severity and benefit to screening (P < 0.05). ConclusionAfrican American women have a relatively high belief of the severity of sickle cell disease and benefits of genetic counseling but frequently do not appear to believe that they are at risk of having a child with the disease. This should be taken into account in the design of educational and counseling strategies.

Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

BackgroundPaget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures.Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB.Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential.Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment.Methods/designThis study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment?2. What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment?DiscussionOur research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.