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PubMed2002

Factors influencing intention to obtain a genetic test for colon cancer risk: a population-based study.

BACKGROUND: The availability of genetic testing for cancer risk has prompted an examination of the intention of the general public to undergo testing. This study expands a previous psychosocial model of factors influencing intention to undergo genetic testing for cancer in general to the context of colon cancer. METHODS: A sample of 1,836 adult residents of Vermont, New Hampshire, and Maine were interviewed via telephone. The survey instrument included measures derived from the Health Belief Model and additional psychosocial measures adapted from the literature. Structural Equation Modeling techniques were used to examine factors associated with the likelihood to undergo genetic testing. RESULTS: Perceived barriers and benefits of testing, and perceived susceptibility to colon cancer had direct associations with likelihood. Optimism and pessimism had both direct and indirect effects. Age, socioeconomic status, family history, and awareness of genetic testing had indirect effects, and acted through the other factors. The model explained 22% of the variance in likelihood. CONCLUSIONS: Perceived barriers, benefits, susceptibility, optimism, and pessimism directly influenced likelihood, and may also mediate the effect of background factors examined in this study. These findings suggest effective educational strategies to improve decision-making concerning genetic testing for colon cancer risk in the general population.

Adult↗

PubMed2026

Prospective clinical validation of targeted long-read sequencing for preimplantation genetic testing of α-thalassaemia.

BACKGROUND: Preimplantation genetic testing for monogenic disorders (PGT-M) can prevent transmission of severe α-thalassaemia, but conventional workflows remain limited by family-specific assay design for direct variant detection, dependence on additional family samples for haplotype construction, and labour-intensive multi-step procedures across several platforms. Targeted long-read sequencing-based PGT-M for α-thalassaemia (tlrPGT-α-thal) integrates direct variant detection and haplotype linkage analysis within a single assay, but prospective clinical validation is lacking. METHODS: This prospective clinical study enrolled 103 families at high risk of transmitting α-thalassaemia at a reproductive medicine centre between August 2024 and March 2025. All families underwent blinded parallel analysis using both conventional NGS-based PGT-M (comparator) and tlrPGT-α-thal. RESULTS: In the primary concordance analysis, tlrPGT-α-thal was fully concordant with conventional NGS-based PGT-M (507/507, 100.0%; exact 95% CI, 99.3-100.0). Direct variant detection was successful in 501/507 embryos (98.82%; 95% CI, 97.4-99.6), haplotype linkage was established in 505/507 embryos (99.61%; 95% CI, 98.6-100.0), and one meiotic recombination event was identified. Among 93 families proceeding to embryo transfer, 57 pregnancies underwent invasive prenatal diagnosis, and all were concordant with the corresponding tlrPGT-α-thal results. Of the 26 comparator-inconclusive embryos, tlrPGT-α-thal resolved 6 complex cases, including cases with incomplete pedigrees or insufficient informative SNPs. Among the remaining 20 embryos with HBA-region aneuploidies, genotype and parental origin could be determined in 12. CONCLUSIONS: The findings show that tlrPGT-α-thal enables direct detection of diverse α-thalassaemia-causing variants together with efficient haplotype linkage analysis within a single workflow, without requiring family-specific assay design or additional family samples. The method demonstrated high diagnostic accuracy while providing added value in complex scenarios. Taken together, tlrPGT-α-thal represents a simplified and broadly applicable strategy for α-thalassaemia PGT-M.

Humans↗

PubMed1993

Relative accuracy of the halothane challenge test and a molecular genetic test in detecting the gene for porcine stress syndrome.

Pietrain swine homozygous for the hal gene (n) associated with porcine stress syndrome (PSS) and a Pietrain-derivative breed, Near Pietrain (NP), with a frequency of .31 for n, were mated to produce reciprocal F1, F2, and purebred NP litters. The halothane challenge test was performed on all 40 parents and 240 progeny to predict their hal genotype and PSS susceptibility. The DNA-based assay for a C to T mutation at base pair 1,843 of the skeletal muscle ryanodine receptor (ryr1) cDNA, which is very highly correlated with PSS, was also determined for these animals. The predicted hal genotypes observed in the progeny differed significantly from the expected Mendelian ratios, and the halothane challenge test consistently overestimated the n/n hal genotype. However, the ryr1 genotypes observed in the progeny did not differ significantly from the expected Mendelian ratios, and this DNA-based assay apparently misidentified only one of the 40 parents. The results of this study indicate that the assay for the ryr1 mutation more accurately predicts both the homozygous and heterozygous forms of the PSS gene than does the halothane challenge test.

Animals↗

PubMed2001

RB1 genetic testing as a clinical service: a follow-up study.

BACKGROUND: Genetic testing for inherited predisposition to diverse cancers has recently become available as a clinical service. We conducted a follow-up study of the initial series of US families who underwent RB1 genetic testing to evaluate long-term effects of the service. PROCEDURE: We enrolled 52 of 71 eligible families who responded to a follow-up study questionnaire administered 3-10 years after receipt of their RB1 results. Each family had one proband with unilateral, non-familial retinoblastoma, which is associated with a 12% pre-test probability of hereditary retinoblastoma. RB1 testing identified germline RB1 mutations in five patients, lowered the carrier probability to 2% in 21 patients, and did not substantially modify the carrier probability in the remaining 26. RESULTS: Diverse medical specialists offered and arranged for RB1 testing, and their recommendation was the most influential factor in the decision to be tested. Pre-test counseling was provided by ophthalmologists (30), oncologists (11), and geneticists and genetic counselors (11). Most respondents, regardless of test result, were satisfied and perceived gains from their genetic testing. Based on small numbers, families with reduced likelihood of hereditary retinoblastoma reported more positive outcomes. Parents of RB1 carriers were more likely to seek medical services, worry, and decide against having more children. CONCLUSIONS: This study demonstrates the feasibility of follow-up studies of families who had genetic testing. Results from our small series suggest that genetic information and counseling are important components of RB1 clinical genetic testing, and long-term adverse effects of testing are uncommon.

Adult↗

PubMed2002

BRCA1 and BRCA2 genetic testing for ovarian cancer: is it all good news?

In England and Wales, ovarian cancer is responsible for about 15 deaths per 100,000 women annually (NHS Executive 1999). It is estimated that only 5-10% of ovarian cancer cases have a hereditary basis (Watson et al. 1996, Hallowell 1999, Eeles & Powles 2000), although recent media excitement may have led some people to believe the odds are higher. The majority of these hereditary cases are thought to be caused by germline mutations in BRCA1 and BRCA2 cancer susceptibility genes (Antoniou et al. 2000, Berchuk et al. 1999). This article will examine current knowledge about BRCA1 and BRCA2 genetic testing for ovarian cancer and follow the journey taken by women who are considering such testing. Genetic counselling and genetic testing will be critically evaluated and the implications for clinical practice, the individual and society as a whole will be discussed.

Journal Article↗

PubMed2025

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.

A lack of structural data in electronic health records (EHRs) makes assessing the impact of genetic testing on clinical practice challenging. We extracted clinical genetic tests from the EHRs of more than 1.8 million patients seen at Vanderbilt University Medical Center from 2002 to 2022. With these data, we quantified the use of clinical genetic testing in healthcare and described how testing patterns and results changed over time. We assessed trends in types of genetic tests, tracked usage across medical specialties, and introduced a new measure, the genetically attributable fraction (GAF), to quantify the proportion of observed phenotypes attributable to a genetic diagnosis over time. We identified 104,392 tests and 19,032 molecularly confirmed diagnoses. The proportion of patients with genetic testing in their EHRs increased from 1.0% in 2002 to 6.1% in 2022, and testing became more comprehensive with the growing use of multi-gene panels. The number of unique diseases diagnosed with genetic testing increased from 51 in 2002 to 509 in 2022, and there was a rise in the number of variants of uncertain significance. The phenome-wide GAF for 6,505,620 diagnoses made in 2022 was 0.46%, and the GAF was greater than 5% for 74 phenotypes, including pancreatic insufficiency (67%), chorea (64%), atrial septal defect (24%), microcephaly (17%), paraganglioma (17%), and ovarian cancer (6.8%). Our study provides a comprehensive quantification of the increasing role of genetic testing at a major academic medical institution and demonstrates its growing utility in explaining the observed medical phenome.

Humans↗

PubMed1999

Frequency of problems during clinical molecular-genetic testing.

Concerns have been raised about the quality of DNA-based genetic testing, but few data are available on the problems that occur during clinical genetic testing. We sought to determine the frequency and severity of such problems in US laboratories. Problems were defined as events that could or did impair patient care significantly. Data on the frequency and severity of adverse events during genetic testing were collected from laboratories by anonymous mail questionnaire and detailed on-site inspection. The surveyed laboratories (n = 42) reported significant problems in 0.33% of tests performed; the corresponding value in the inspected laboratories (n = 2) was 0.38%. Sixty percent of problems occurred in the pretest phase, 32% in the laboratory phase, and 8% in the posttest phase or multiple phases. The average level of actual harm resulting from these problems was low. Moderate or high levels of harm occurred in only 0.008% of total cases. No lawsuits, judgments, or disciplinary actions were taken against the laboratories in 277,000 tests performed. The overall frequency of problems in a given laboratory did not correlate with laboratory age, test volume, accreditation status, proficiency testing performance, or institution type (academic, private nonprofit, private for profit). In conclusion, significant problems during genetic testing occur infrequently (< 0.5% in most laboratories), and problems resulting in moderate or high levels of harm to patients are rare (0.008%).

Adult↗

PubMed2004

Regulatory approaches to reproductive genetic testing.

This report analyses the ethical and legal aspects of reproductive genetic testing in 11 countries (Australia, Austria, Canada, France, Germany, India, Israel, Japan, The Netherlands, Switzerland and the UK). The legal status of reproductive genetic testing in the countries under analysis is difficult to generalize due to the different regulatory systems adopted. These approaches are a reflection of the legal traditions and cultural and socio-religious beliefs which inform and shape public policy on assisted reproductive technologies and genetic testing. We divide approaches into two groups: public ordering (legislative, top-down approach) and private ordering (non-legislative, bottom-up approach). Even limiting our analysis to a number of countries that span the range from restrictive to pragmatic approaches, there is remarkable symmetry in both the (i) substantive requirements (i.e. gravity, health indications generally) and (ii) procedural safeguards (i.e. informed consent, counselling, confidentiality, civil status, oversight and accreditation) surrounding reproductive genetic testing. Indeed, irrespective of whether a country adopts a prohibitive or a permissive approach through legislation or self-regulation or a mix of both, the ultimate decision is--and should continue to be--a medical one. Nowhere is this more evident than in the substantive requirements.

Confidentiality↗

PubMed2002

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA. Approximately 30 small intragenic SMN1 mutations have also been described. These mutations are present in many of the approximately 6% of SMA patients who do not lack both copies of SMN1, whereas SMA of other patients without a homozygous absence of SMN1 is unrelated to SMN1. A commonly used polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) assay can be used to detect a homozygous absence of SMN1 exon 7. SMN gene dosage analyses, which can determine the copy numbers of SMN1 and SMN2 (an SMN1 homolog and a modifier for SMA), have been developed for SMA carrier testing and to confirm that SMN1 is heterozygously absent in symptomatic individuals who do not lack both copies of SMN1. In conjunction with SMN gene dosage analysis, linkage analysis remains an important component of SMA genetic testing in certain circumstances. Genetic risk assessment is an essential and integral component of SMA genetic testing and impacts genetic counseling both before and after genetic testing is performed. Comprehensive SMA genetic testing, comprising PCR-RFLP assay, SMN gene dosage analysis, and linkage analysis, combined with appropriate genetic risk assessment and genetic counseling, offers the most complete evaluation of SMA patients and their families at this time. New technologies, such as haploid analysis techniques, may be widely available in the future.

Arthrogryposis↗

PubMed1994

Attitudes about genetic testing for breast-ovarian cancer susceptibility.

PURPOSE: In anticipation of the availability of genetic testing for a breast-ovarian cancer susceptibility gene (BRCA1), this study examined interest in and expectations about the impact of a potential genetic test. PATIENTS AND METHODS: The subjects were 121 first-degree relatives (FDRs) of ovarian cancer patients. The design was cross-sectional. Subjects completed a structured telephone interview of attitudes about cancer and genetic testing, and self-report psychologic questionnaires to assess coping style and mood disturbance. RESULTS: Overall, 75% of FDRs said that they would definitely want to be tested for BRCA1 and 20% said they probably would. In bivariate analyses, interest was associated positively with education, perceived likelihood of being a gene carrier, perceived risk of ovarian cancer, ovarian cancer worries, and mood disturbance. In logistic regression analysis, perceived likelihood of being a gene carrier was associated strongly with interest (odds ratio, 3.7; P = .006). Results of stepwise linear regression modeling indicated that an anticipated negative impact of genetic testing was associated with being younger (beta = -.66, P = .009), having more mood disturbance (beta = .015, P = .01), and having an information-seeking coping style (beta = .19, P = .002). CONCLUSION: These results suggest that the demand for genetic testing for BRCA1 among FDRs of cancer patients may be great. Moreover, those who elect to participate may represent a more psychologically vulnerable subgroup of high-risk women.

Adolescent↗

PubMed1999

Commercialization of BRCA1/2 testing: practitioner awareness and use of a new genetic test.

It was our purpose to determine the characteristics of practitioners in the United States who were among the first to inquire about and use the BRCA1 and BRCA2 (BRCA1/2) genetic tests outside of a research protocol. Questionnaires were mailed to all practitioners who requested information on or ordered a BRCA1/2 test from the University of Pennsylvania (UPenn) Genetic Diagnostics Laboratory (GDL) between October 1, 1995 and January 1, 1997 (the first 15 months the test was available for clinical use). The response rate was 67% of practitioners; 54% (121/225) were genetic counselors, 39% (87/225) were physicians or lab directors. Most physicians were oncologists, pathologists, or obstetrician/gynecologists, but 20% practiced surgery or internal or general medicine. Fifty-six percent (125/225) had ordered a BRCA1/2 test for a patient; most of the rest had offered or were willing to offer testing. Of those who had offered testing, 70% had a patient decline BRCA1/2 testing when offered. Practitioners perceived that patients' fear of loss of confidentiality was a major reason for declining. Nearly 60% of practitioners reported that their patients had access to a genetic counselor, but 28% of physicians who ordered a BRCA1/2 test reported having no such access, despite the GDL's counseling requirement. The proportion of physicians reporting no access to genetic counselors for their patients increased from 22.4% in the first half of the study to 50% in the last half. Many practitioners have an interest in BRCA1/2 testing, despite policy statements that discourage its use outside of research protocols. Practitioner responses suggest that patient interest in testing seems to be tempered by knowledge of potential risks. An apparent increase in patient concern about confidentiality and inability to pay for testing could indicate growing barriers to testing. Although most practitioners reported having access to counseling facilities, perceived lack of such access among an increasing proportion of practitioners indicates that lab requirements for counseling are difficult to enforce and suggests that an increasing proportion of patients may not be getting access to counseling.

Awareness↗

PubMed1995

Removing the shadow of the law from the debate about genetic testing of children.

When physicians view efforts to obtain genetic testing for children as unwise or contrary to the children's interests, they face difficult problems both of ethics and of communicating with the parents. Contrary to the suggestions of some, the law has little to say about how physicians resolve these dilemmas. Parents do not have a constitutionally protected right to demand that unwilling physicians perform these tests. In addition, there is little risk of liability for damages unless the child suffers physical harm as a result of the physician's refusal to do the test. The debate about genetic testing of children needs to take place with a clear understanding of the law's limited impact.

Child↗

PubMed2003

Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing.

Positive control materials for clinical molecular genetic testing applications are currently in critically short supply or non-existent for many genetically based diseases of public health importance. Here we demonstrate that anonymous, residual, clinical blood samples are potential sources of viable lymphocytes for establishing Epstein-Barr virus (EBV)-transformed blood lymphocyte cell lines. We attempted to transform 34 residual blood samples, and analyzed transformation success with respect to sample age, anticoagulant, storage temperature, volume, hemolysis, and patient age and sex. In univariate analysis, sample age was significantly associated with transformation success (P = 0.002). The success rate was 67% (6 of 9) for samples 1 to 7 days old, 38% (3 of 8) for samples 8 to 14 days old and 0% for samples 15 to 21 (0 of 11) days old. When we controlled for sample age in multivariate logistic regression, anticoagulant and storage temperature approached significance (P = 0.070 and 0.087, respectively; samples in acid citrate dextrose (ACD) and refrigerated samples were more likely to transform). Based on these findings, we suggest that samples collected in either ACD or ethylene diamine tetraacetic acid, and up to 14 days old (refrigerated) or 7 days old (stored ambient), are reasonable candidates for EBV transformation. The transformation rate for samples that met these criteria was 63% (10 of 16). Implementation of this process could help alleviate the shortage of positive control materials for clinical molecular genetic testing.

Adult↗

PubMed2002

[Genetic testing and counseling for familial tumor syndromes].

Recent developments in molecular biology have increased our understanding of the genetics of familial tumor syndromes. Isolation of the responsible genes has made it possible to identify gene carriers before they manifest clinical symptoms, which enables early detection of disease and at times prophylactic surgery. Indications for genetic testing of susceptible family members, however, should be carefully considered. Genetic counseling must be provided to clients before genetic tests. Patients should be provided with the latest knowledge on the disease and appropriately informed of the benefits and possible problems associated with genetic test, as such information is essential for clients to decide whether they will undergo such tests. Genetic medicine is not sufficiently available at present in Japan. Establishment of genetic services that deal with genetic counseling, family support and ethical, social and legal issues is strongly desired.

Adenomatous Polyposis Coli↗

PubMed2004

Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility.

Genetic testing for cancer susceptibility (e.g. hereditary non-polyposis colorectal cancer) is available for some families with a history of colon cancer. Our aim was to investigate participants' anticipated emotional and behavioral reactions to genetic testing for colon cancer and whether gender or clinical risk influences these reactions. 437 asymptomatic participants with a colorectal cancer family history completed a questionnaire about anticipated emotions and actions, under different genetic testing scenarios. More women than men anticipated feeling worried, regretful, and angry if tested positive. People at lower-risk anticipated more surprise and disbelief than those at higher-risk. People anticipated feeling more guilt, regret and less relief if they were not tested than if they were. High-risk results were anticipated to increase depression and worry. Most people still wanted screening if at low risk, anticipated leading healthier lifestyles whatever the result, but would make more plans for the future if they were at high risk. Clinical implications are that as anticipated emotional effects of not being tested may be more severe than having a test, people choosing to forgo testing should feel able to reconsider their decision anytime. Most people did not anticipate strong emotional reactions but thought it would change their lifestyle and would like continued clinical surveillance whatever the result.

Attitude to Health↗

PubMed1997

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.

OBJECTIVE: Primary caregivers should be aware of recent progress in the genetics of Alzheimer disease (AD) and of the clinical and ethical considerations raised regarding the introduction of genetic testing for purposes of disease prediction and susceptibility (risk) analysis in asymptomatic individuals and diagnosis in patients who present clinically with dementia. This statement addresses arguments for and against clinical genetic testing. PARTICIPANTS: The 20 participants were selected by the investigators (S.G.P., T.H.M., A.B.Z., and P.J.W.) to achieve balance in the areas of genetics, counseling, ethics, and public policy, and to include leadership from related consensus projects. The consensus group met twice in closed meetings and carried on extensive correspondence over 2 years (1995-1997). The project was supported by the National Human Genome Research Institute of the National Institutes of Health. EVIDENCE: All 4 involved chromosomes were discussed in group meetings against a background of information from several focus group sessions with AD-affected families. The focus groups comprised volunteers identified by the Cleveland Area Chapter of the Alzheimer's Disease and Related Disorders Association and represented a variety of ethnic populations. CONSENSUS PROCESS: The first draft was written in April 1996 by the principal investigator (S.G.P.) after the consensus group had met twice. The draft was mailed to all consensus group members 3 times over 6 months for extensive response and redrafting by the principal investigator until all members were satisfied. CONCLUSIONS: Except for autosomal dominant early-onset families, genetic testing in asymptomatic individuals is unwarranted. Use of APOE genetic testing as a diagnostic adjunct in patients already presenting with dementia may prove useful but it remains under investigation. The premature introduction of genetic testing and possible adverse consequences are to be avoided.

Advisory Committees↗

PubMed2004

Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling.

PURPOSE: Data on the actual uptake of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) in a clinical sample is still inconclusive. The present study aimed to define the actual uptake of genetic counseling and testing offered to an unselected sample of 140 patients with colorectal cancer, fulfilling clinical criteria (Amsterdam or Bethesda) suggestive of HNPCC, and to identify demographic and psychosocial factors associated with the decision to participate in counseling. METHODS: Cross-sectional survey. Eligible subjects had been consecutively enrolled in a regional tumor registry between 1994 and 1998, and were invited to attend an information session for HNPCC at the time genetic testing for HNPCC became available. Participants and nonparticipants in the information session completed a short questionnaire. RESULTS: The actual uptake rate of the information session in this sample was 26 percent. Participants and nonparticipants were comparable with regard to clinical criteria suggestive of HNPCC, awareness of the potential hereditary predisposition, and previous history of cancer in the family. Some 60 percent of participants experienced pronounced distress related to their potential inheritance of the disorder, compared to 35 percent among nonparticipants. Distress reached a clinically significant level in 28 percent of participants. Restricted communication within the family was observed frequently. Irrespective of groups, a positive attitude toward obtaining a gene test result predominated. CONCLUSIONS: Results suggest that expressed intention and attitude toward genetic testing do not reliably predict actual uptake of counseling or testing. Thorough interdisciplinary counseling should be provided to every patient with clinical criteria suggestive of HNPCC. The considerable distress related to the hereditary disorder should be adequately addressed, as should be communication issues.

Adult↗

PubMed2003

Implications of genetic testing: discrimination in life insurance and future directions.

This article examines the possibility of genetic discrimination in life insurance and discusses the inability of current Australian legislation to deal adequately with genetic test result information. Genetic information has certain features that distinguish it from other medical information and thus a specialist legislative package is required to regulate its use. This article outlines how current practices in the life insurance industry are inconsistent with notions of human rights. Several legislative options are suggested and examined. Given the negative and damaging impact that adverse selection is likely to have on the life insurance industry should the use of all genetic test results be prohibited, an approach which modifies the current regime is recommended. This includes a comprehensive review scheme and the introduction of additional insurance products tailored to individuals suffering from various genetic illnesses or predispositions to future disease.

Australia↗