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PubMedDate not supplied

Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing.

OBJECTIVE: A subset of women who are at elevated cancer risk due to family history exhibit evidence of cancer-specific distress. These stress responses may represent symptoms of posttraumatic stress disorder (PTSD). The present study assessed rates of PTSD related to personal or family cancer history and BRCA1/2 testing. METHODS: Participants were 84 women enrolled in a larger project focused on genetic testing decisions. Semistructured diagnostic interviews were used to identify instances of threshold and subthreshold PTSD. RESULTS: Results indicated that 16.7% of the women reported current threshold or subthreshold PTSD related to personal or family cancer history. An additional 26.2% reported past-only cancer-related threshold or subthreshold PTSD. Of the 65 women who received BRCA1/2 results and completed the test-related PTSD module, only 7.7% reported threshold or subthreshold PTSD related to the genetic testing process. However, when rates were examined based on carrier status, 25.0% of BRCA1/2 carriers reported test-related threshold or subthreshold PTSD compared with only 10.0% of variants and 2.3% of noncarriers. CONCLUSIONS: Results from this study suggest that both personal and family cancer diagnoses can be significant stressors for a subset of high-risk women. Rates of threshold and subthreshold PTSD related to genetic testing appear to be less common, although carriers may be at higher risk for significant posttraumatic symptoms.

Adult↗

PubMed2000

Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.

Although many types of diagnostic and carrier testing for genetic disorders have been available for decades, the use of molecular methods is a relatively recent phenomenon. Such testing has expanded the range of disorders that can be diagnosed and has enhanced the ability of clinicians to provide accurate prognostic information and institute appropriate health supervision measures. However, the proper application of these tests may be difficult because of their scientific complexity and the potential for negative, sometimes unexpected, consequences for many patients. The purposes of this subject review are to provide background information on molecular genetic tests, to describe specific testing modalities, and to discuss some of the benefits and risks specific to the pediatric population. It is likely that pediatricians will use these testing methods increasingly for their patients and will need to evaluate critically their diagnostic and prognostic implications.

Adolescent↗

PubMed2005

Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer.

PURPOSE: This study examines the impact of hereditary nonpolyposis colorectal cancer (HNPCC) genetic test results on psychological outcomes among cancer-affected and -unaffected participants up to 1 year after results disclosure. PATIENTS AND METHODS: A total of 155 persons completed study measures before HNPCC genetic testing, and at 2 weeks and 6 and 12 months after disclosure of test results. RESULTS: Mean scores on all outcome measures remained stable and within normal limits for cancer-affected participants, regardless of mutation status. Among unaffected carriers of HNPCC-predisposing mutations, mean depression, state anxiety, and cancer worries scores increased from baseline to 2 weeks postdisclosure and decreased from 2 weeks to 6 months postdisclosure. Among unaffected noncarriers, mean depression and anxiety scores did not differ, but cancer worries scores decreased during the same time period. Affected and unaffected carriers had higher mean test-specific distress scores at 2 weeks postdisclosure compared with noncarriers in their respective groups; scores decreased for affected carriers and all unaffected participants from 2 weeks to 12 months postdisclosure. Classification of participants into high- versus low-distress clusters using mean scores on baseline psychological measures predicted significantly higher or lower follow-up scores, respectively, on depression, state anxiety, quality of life, and test-specific distress measures, regardless of mutation status. CONCLUSION: Although HNPCC genetic testing does not result in long-term adverse psychological outcomes, unaffected mutation carriers may experience increased distress during the immediate postdisclosure time period. Furthermore, those with higher levels of baseline mood disturbance, lower quality of life, and lower social support may be at risk for both short- and long-term increased distress.

Colorectal Neoplasms, Hereditary Nonpolyposis↗

PubMed2001

Predictive genetic testing -- new possibilities in determination of risk of complex diseases.

Predictive genetic testing offers the possibility to statistically determine the risk of inheriting a complex phenotype by establishing an individual s genotype for metabolic polymorphisms. Here we discuss the conditions under which a predictive test may be offered to a patient and the problems connected with it. Examples of predictive genetic testing for multifactorial diseases and drug responses are given. We describe in detail the association of the C677T polymorphism of methylentetrahydrofolate reductase gene with hyperhomocystinemia and folate levels, as an independent risk factor for cardiovascular disease, and the association of a polymorphism of the promoter of the 5-lipoxygenase gene and the response to leukotriene inhibitors in asthma. Prospective development of genomic medicine and its use in the study of complex traits will hopefully bring significant benefit to the population and enhance the prevention and therapy of common diseases.

Cardiovascular Diseases↗

PubMed2006

Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices.

PURPOSE: To assess the impact of direct-to-consumer marketing of genetic testing for risk of breast and ovarian cancer by a biotechnology company on: 1) physicians' knowledge; 2) reasons given when asking questions about the test; and 3) physicians' practice patterns in two pilot cities where the campaign took place and two control cities. METHODS: Survey of randomly selected family physicians, internists, obstetrician-gynecologists, and oncologists from May 1-May 21, 2003. RESULTS: Physicians' knowledge did not differ between pilot and control cities. Significant differences (pilot versus control cities) were seen in the reasons patients gave for asking questions about testing. More physicians in pilot cities (14%) than control cities (7%) reported an increase in the number of times they ordered genetic testing for breast and ovarian cancer risk in the previous 6 months (adjusted odds ratio 1.9, 95% confidence interval, 1.2-3.1). Awareness of professional guidelines and being in a practice with a policy on genetic testing for risk of breast and ovarian cancer were associated with physicians' behaviors and interest among patients in testing. CONCLUSIONS: Given the complexity and limitations of genetic testing for risk of breast and ovarian cancer, the development and broad dissemination of clinical guidelines and education of physicians are needed.

Breast Neoplasms↗

PubMed2003

Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing.

From the geneticist's (or 'genetic counsellor's') perspective, lay models of inheritance can be perceived as problematic because they might interfere with understanding and acceptance of the explanation of inheritance provided in genetic counselling. The work presented here forms part of a larger qualitative grounded-theory study where the aim was to develop theory that could explain variations in adjustment to genetic testing for hereditary non-polyposis colon cancer (HNPCC). Ten of the 29 individuals interviewed who were at 50% or 25% risk used a 'personal theory of inheritance' to justify or explain a belief that they did, or did not, carry the family mutation. Two others indicated that, as a coping strategy, they chose to believe themselves to be carriers. This article presents part of the theory of engagement that was constructed using this data, relating to the process of development of risk perception. The theory suggests that for some individuals, these beliefs can form part of a process of coping and coming to terms with risk. An exploration of these processes may help practitioners to better understand the complexity of risk perception in individuals at genetic risk for cancer, particularly those preparing for predictive test results. Further development and testing of the theory is discussed.

Adaptation, Psychological↗

PubMed2002

Genetic testing in the workplace: the employer's coin toss.

A toss of the coin by the modern-day employer reveals two options regarding genetic testing in the workplace. The employer may choose to take advantage of increasingly precise, available, and affordable genetic testing in order to ascertain the genetic characteristics--and deficiencies--of its employees. This outcome exposes the employer to a vast array of potential litigation and liability relating to the Americans with Disabilities Act, the Fourth Amendment, Title VII of the Civil Rights Act, and state legislation designed to protect genetic privacy. Alternatively, the employer may neglect to indulge in this trend of genetic testing and may face liability for employer negligence, violations of federal legislation such as OSHA regulations, and increased costs associated with insuring the health of genetically endangered employees. In the rapidly developing universe of genetic intelligence, the employer is faced with a staggering dilemma.

Carpal Tunnel Syndrome↗

PubMed2000

Rare syndromes and genetic testing for colorectal cancer.

The genes responsible for each of the inherited syndromes of intestinal polyposis and colorectal cancer are now known. This knowledge has led to genetic testing for syndrome diagnosis and for determining which persons in an affected family actually have the condition. Genetic testing has also allowed a more precise clinical characterization of each of the syndromes and their subtypes. Optimal application of genetic testing, proper cancer prevention, and management of nonmalignant features of each of the syndromes are the next goals. This report summarizes each of the syndromes, their genetics, and management and provides an approach for genetic testing.

Adult↗

PubMed2002

Attitudes of pediatric residents toward ethical issues associated with genetic testing in children.

OBJECTIVE: To assess the attitudes of pediatric residents toward molecular genetic testing and some associated ethical issues that accompany its use in pediatric patients. METHODS: A questionnaire study of pediatric residents (n = 160; response rate: 40%) enrolled in training programs at 3 New York metropolitan area hospitals was designed to determine their attitudes toward genetic testing in children and adolescents. The study instrument presented 2 clinical vignettes that described scenarios where a pediatric patient was at risk for being affected with or a carrier of a genetic disorder. Residents returned the questionnaire anonymously. RESULTS: Most pediatric residents recognized the importance of educating family members (95%) and at-risk individuals (89%) about the inheritance pattern of the disorders they were at risk for. However, a substantial number would order predictive testing for Huntington disease in a child at the request of a parent (39% at age 10 and 52% at age 17), and more than half would order fragile X carrier studies on the cognitively normal sister of an affected male (56%). CONCLUSIONS: An effort must be made to educate all physicians during their residency training about the ethical issues associated with genetic testing. For pediatric residents, such education must include instruction on the complexities associated with offering such testing in this age group.

Adolescent↗

PubMedDate not supplied

Caught in the middle again: professional ethical considerations in genetic testing for health risks.

Genotyping tests for molecular mutations associated with clinical syndromes increasingly allow clinicians to identify health risks before clinical problems occur, sometimes making prevention possible. The clinical use of these tests, however, can create moral problems for families and serious health policy challenges for communities. Those issues, in turn, complicate the professional ethics of genetic testing and counseling. Investigators working with families in gene-identification studies have already encountered these complications in the research setting and their experiences may help in the development of a clinical ethic for genetic testing. In addition to questions about the predictive significance of particular genotypes, three other sets of ethical considerations are becoming important to professional decision-making about genetic testing: the psycho-social impact of testing, the patient's privileges with respect to testing, and the potential for effective prevention following testing. Underlying all these considerations are basic lessons from the research setting on how clinicians should interpret genetic testing for patients, given the heavily deterministic meanings that they have been taught thus far.

Ethics, Medical↗

PubMed2001

Genetic testing and insurance: opportunities and challenges for society.

The increased availability of genetic tests poses new challenges to society. Here, we address the wider implications of genetic testing, with an emphasis on the markets for insurance. It also considers issues such as confidentiality, patient autonomy and fear of discrimination and the doctor-patient relationship.

Europe↗

PubMed2003

Genetic testing for high-risk colon cancer patients.

Colorectal cancer is the third leading cause of cancer-related deaths in both men and women in the United States and is estimated to have affected 148,000 people in 2002. The cumulative lifetime risk for colon cancer is approximately 5%-6%, and this risk is influenced by hereditary and lifestyle factors. In fact, 20%-30% of all colon cancer cases have a potentially definable inherited cause, and 3%-5% of colon cancers occur in genetically defined high-risk colon cancer family syndromes. Although the genes responsible for the cases of moderate-risk colon cancer remain to be characterized, many of the genes responsible for the high-risk colon cancer cases have already been determined. These genetic discoveries have been translated into clinical practice and have led to improved risk assessment through the use of genetic testing. The introduction into clinical practice of genetic testing for the assessment of colon cancer risk has led to more effective management strategies for patients with potentially high-risk colon cancer and has presented new challenges to the clinician because of the unique issues involved with genetic testing. In this review, an overview of the colon cancer high-risk syndromes, with a focus on the availability and indications for genetic testing, is presented.

Adenomatous Polyposis Coli↗

PubMed2003

Intention to pursue genetic testing for breast cancer among women due for screening mammography.

Because few studies have addressed the intention to pursue testing for breast cancer susceptibility among women in the general population, we examined whether women due for routine mammography would want such testing and what factors might impact on their decision to pursue testing. A questionnaire was mailed to women > or =50 years of age who had undergone a screening mammogram 12 to 14 months before the study. Univariate and multivariable analyses were conducted to identify factors associated with intention to pursue genetic testing. Approximately 41% of respondents probably or definitely intended to pursue testing. In univariate analysis, the intention to undergo testing was not significantly associated with age, education, marital status, potential effects on health or life insurance, or physician recommendation. Although significant in univariate analysis, family history of breast cancer and ethnicity were not significant in multivariable analysis. In both univariate and multivariable analysis, factors significantly associated with intention to undergo testing included awareness of genetic testing, cancer worry, and insurance coverage of testing cost. Intention also was associated with the respondent wanting to know whether she possessed the susceptibility gene, even if that knowledge would not impact on options for early detection or treatment. Given the relatively high level of interest in testing among women at average risk of breast cancer, these results may help health care professionals educate and counsel women regarding the appropriate use of genetic testing as well as breast cancer risk factors.

Aged↗

PubMed2004

Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort.

BRCA1/2 test decliners/deferrers have received almost no attention in the literature and this is the first study of this population in the United Kingdom. The aim of this multicenter study is to examine the attributes of a group of individuals offered predictive genetic testing for breast/ovarian cancer predisposition who did not wish to proceed with testing at the time of entry into this study. This forms part of a larger study involving 9 U.K. centers investigating the psychosocial impact of predictive genetic testing for BRCA1/2. Cancer worry and reasons for declining or deferring BRCA1/2 predictive genetic testing were evaluated by questionnaire following genetic counseling. A total of 34 individuals declined the offer of predictive genetic testing. Compared to the national cohort of test acceptors, test decliners are significantly younger. Female test decliners have lower levels of cancer worry than female test acceptors. Barriers to testing include apprehension about the result, traveling to the genetics clinic, and taking time away from work/family. Women are more likely than men to worry about receiving less screening if found not to be a carrier. The findings do not indicate that healthy BRCA1/2 test decliners are a more vulnerable group in terms of cancer worry. However, barriers to testing need to be discussed in genetic counseling.

Adult↗

PubMedDate not supplied

Women's knowledge and attitudes about genetic testing for breast cancer susceptibility.

OBJECTIVE: To assess female primary care patients' knowledge about breast cancer genetics and attitudes toward genetic testing. DESIGN: Self-administered survey. PARTICIPANTS: A convenience sample of 91 female patients awaiting appointments at a large primary care clinic of Group Health Cooperative in Seattle, Washington. RESULTS: Forty-seven percent of women had read or heard almost nothing about genetic susceptibility testing, and most did not know the answers to questions that assessed knowledge about breast cancer genetics. Eighty-one percent "somewhat" or "strongly" agreed that testing should be offered to everyone; women who had heard or read about genetic testing for breast cancer were more likely to agree that genetic testing should be offered only to people who have a reason to think that they have an altered gene. When asked whether they planned to have genetic testing for breast cancer, many women said "probably or definitely yes" (71% would do so if insurance covered the cost; 44% would do so even if they had to pay out-of-pocket). CONCLUSIONS: Although most women knew little about genetic testing, many expressed interest in being tested and believed that it should be offered to everyone. Primary care providers may be asked to educate women about cancer genetics and appropriate use of susceptibility testing.

Adolescent↗

PubMed1995

Attitudes toward genetic testing for colon cancer risk.

This study examined public interest regarding genetic testing for colon cancer susceptibility. Survey data were collected from 383 adults in Utah. Respondents were very (47.3%) or somewhat (36.6%) interested in taking this genetic test. Nearly 95% reported that they would share their results with others. Individuals with higher income and with a perceived risk of getting colon cancer were the most interested in testing. Individuals without health insurance and widowed individuals were the least likely to share their test results. If respondents were told that they carried a gene for colon cancer, most would be concerned with how to reduce their risk of getting the disease.

Adult↗

PubMed2003

Motion--genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: arguments for the motion.

Mutations of three major genes are associated with an increased risk of acute and chronic pancreatitis: the cationic trypsinogen (PRSS1) gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the pancreatic secretory trypsin inhibitor (PSTI) or serine protease inhibitor, Kazal type 1 (SPINK1) gene. Some autosomal dominant forms of hereditary pancreatitis are associated with mutations of the PRSS1 gene, which can be readily identified by genetic testing. Mutations of the CFTR gene can lead either to cystic fibrosis or to idiopathic chronic pancreatitis, and to a variety of cystic fibrosis-associated disorders, including congenital bilateral absence of the vas deferens and sinusitis. These mutations, as with those of the SPINK1 (or PSTI) gene, are prevalent in North America; thus, the presence of such a mutation in an asymptomatic person does not confer a high risk of developing pancreatitis. Combinations of mutations of the PRSS1 and SPINK1 genes lead to more severe disease, as indicated by an earlier onset of symptoms, which suggests that SPINK1 is a disease modifier. The major fear expressed by potential candidates for genetic testing is that the results could lead to insurance discrimination. Studies of the positive predictive value of genetic tests are hampered by recruitment bias and lack of knowledge of family history of pancreatitis. Genetic testing is most useful for persons for whom family members have already been found to exhibit a particular pancreatitis-associated mutation. In the future, increased knowledge of the myriad genetic causes of pancreatitis, as well as advances in the diagnosis and treatment of early chronic pancreatitis, should enhance the utility of genetic testing.

Codon↗

PubMed1999

Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis.

BACKGROUND: Mutations of the APC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. AIMS: To conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. METHODS: All direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model. RESULTS: The baseline analysis predicted that screening a prototype FAP family would cost $4975/ pound3109 by molecular testing and $8031/ pound5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/ pound4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives. CONCLUSIONS: In FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.

Adenomatous Polyposis Coli↗