Cancer specialists in the VA as early adopters of clinical genetic services.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 11029-11029
Author(s):  
Maren Theresa Scheuner ◽  
Paloma Sales ◽  
Mary Whooley ◽  
Katherine Hoggatt ◽  
Michael Kelley
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Genetic Test ◽  
Primary Care Providers ◽  
Precision Oncology ◽  
Genetic Tests ◽  
The Past ◽  
Cancer Specialists ◽  
Genetics Referral ◽  
Test Ordering

11029 Background: Genetic testing has become essential to delivery of cancer treatment, risk assessment, surveillance, and prevention. We sought to understand the use of genetic tests by clinicians in the Department of Veterans Affairs (VA). Methods: We administered a web-based survey to clinicians at 20 VA facilities with precision oncology programs. We excluded respondents if they were: not at one of the 20 VA facilities; not seeing patients in VA; not a physician, nurse practitioner (NP), physician assistant (PA), or pharmacist; a medical geneticist or specialty was not reported; or if the survey was incomplete. Using multiple logistic regression, we assessed the association between genetic test ordering, genetics referral, and clinician characteristics. Results: There were 909 (909/11,442, 8%) eligible respondents with 61% women and 64% under age 55. There were 571 physicians (63%), 200 NPs (22%), 93 pharmacists (10%), and 45 PAs 5(%). There were 361 (40%) primary care providers (PCPs), 90 (10%) cancer specialists, and 458 (50%) non-cancer specialists. Only 21% of clinicians reported feeling prepared to use genetic tests in their practice. In the past year, only 8% had ordered at least one multi-gene cancer test (germline, tumor or both), 12% a pharmacogenetic test, and 0.2%, an exome. Compared to physicians, NPs were 60% less likely (OR = 0.42, 0.23-0.77, p = 0.005), pharmacists, 80% less likely (OR = 0.22, 0.08-0.62, p = 0.005), and PAs, 90% less likely (OR = 0.08, 0.01-0.58, p = 0.01) to have ordered a genetic test. Compared to PCPs, cancer specialists were almost 5 times more likely to order a genetic test (OR = 4.74, 2.57-8.73, p < 0.0001); there was no difference in genetic test ordering between PCPs and non-cancer specialists. Among clinicians (n = 72) who had ordered cancer genetic tests, only about two-thirds were confident in knowing the indications for testing; discussing the potential benefits, harms and limitations of testing; understanding the test report; and knowing implications of results on disease management and prevention. Clinicians (n = 106) who had ordered pharmacogenetic tests had lower frequencies of confidence in these tasks. About half (52%) of the cancer specialists had referred patients to genetics in the past year; they were 1.8 times more likely than PCPs to refer (OR = 1.82, 1.10-3.03, p = 0.02), and non-cancer specialists were about 50% less likely than PCPs to refer (OR = 0.46, 0.33-0.64, p < 0.0001). Conclusions: In the VA, cancer specialists are integrating genetic testing and genetics referral into their practice more than PCPs and other specialists. However, genetic testing is underutilized, and many clinicians remain unprepared to use genetic tests in their practice. These results will inform workforce planning, clinician education, and development of clinical decision support to facilitate genetic risk assessment, informed consent, and ordering of genetic tests.

scholarly journals Genetic testing for color vision deficiency

2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Color Vision ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Color Vision Deficiency ◽  
Dark Adaptometry

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Mendelian myopia

2017 ◽  
Vol 1 (s1) ◽  
pp. 74-76
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for lymphedema-distichiasis syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 13-15
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Carla Marinelli ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Double Row ◽  
Primary Lymphedema

AbstractWe studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

“What About Your Genes?” Ethical, Legal, and Policy Dimensions of Genetics in the Workplace

1997 ◽  
Vol 16 (1) ◽  
pp. 57-75 ◽  
Author(s):  
Trudo Lemmens
Keyword(s):  
Genetic Testing ◽  
Bargaining Power ◽  
Ethical Issues ◽  
Genetic Test ◽  
Genetic Data ◽  
Scientific Validity ◽  
Genetic Tests ◽  
Antidiscrimination Law ◽  
Harm To Others

Although few companies are currently applying genetic tests or using genetic data, further developments in genetics will likely increase the role of genetics in the workplace. This article discusses the complex ethical issues raised by the variety of genetic tests that could become available and proposes guidelines for dealing with genetics in the workplace. It discusses how the results of genetic testing could be used for employment purposes, and argues that the existence of unequal bargaining power in the workplace limits the validity of consent as a basis for policymaking. Instead, two specific justifications for genetic testing in the workplace are proposed: the protection of health and the avoidance of harm to others. The author suggests that genetic testing should be permitted only in exceptional circumstances and that every genetic test should be evaluated on its scientific validity and submitted to rigorous review. Existing antidiscrimination law proves to be a useful model for examining the rationality and proportionality of genetic testing in the workplace.

scholarly journals Knowledge and awareness of genetic test available for risk of breast cancer among female students in UiTM

2021 ◽  
Vol 1 ◽  
pp. 14-18
Author(s):  
Sharifah Norliana Syed Hussin
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Developed Countries ◽  
Genetic Tests ◽  
Cross Sectional ◽  
Convenience Sample ◽  
Medical Undergraduate ◽  
University Technology ◽  
Level Of Knowledge

Background: Malaysians are less likely to be highly exposed of the information regarding genetic tests as compared to citizens of developed countries in the world. In addition to that, little is known about the level of knowledge and awareness of the genetic testing for risk of breast cancer detection among the students in University Technology Mara (UiTM). Materials and methods: A cross-sectional with correlational design study using a self-administered questionnaire was conducted among medical and non-medical undergraduate students of University Technology Mara (UiTM). The population from which the convenience sample gathered were those who fulfilled the inclusion criteria of this study. Results: Three hundred and eighty six (386) respondents were involved in present study, (50.8%) of them were familiar with the existence of the test while the remaining (49.2%) did not know about the genetic tests available for detecting gene mutations. Regards their interest in genetic testing to detect inheritable mutations, (35.8%) of them were definitely interest in the test, (38.3%) of them were probably interest in the test, (20.7%) of them were considering the test and the remaining (5.2%) have no interest in the test at all. About their awareness of the genetic test available for mutations detections, majority of them, (67.9%), agreed to get tested in order to learn of their own risk in getting breast cancer. In terms of their reason to avoid being tested, many of them, (40.7%) mentioned that the main reason is if the result comes out positive for genetic mutations, it will disrupt their daily lives. Conclusion: There were mild level of knowledge and moderate level of awareness about breast cancer genetic tests, but the respondents showed high level of interest towards genetic test available for breast cancer risk detection. Educational materials and programs may increase knowledge and awareness about the genetic test available for detection of inheritable mutations. The effectiveness of the educational strategies shall be tested in the future.

scholarly journals Consumer preferences for the predictive genetic tests for Alzheimer’s disease

2012 ◽  
Vol 13 (2) ◽  
pp. 61-67 ◽  
Author(s):  
Ming-Yi Huang ◽  
Matthew Perri III
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Testing ◽  
Genetic Test ◽  
Public Awareness ◽  
False Negative ◽  
Consumer Preference ◽  
Predictive Genetic Testing ◽  
Genetic Tests ◽  
Predictive Genetic Tests

With the advent of predictive genetic tests, individuals will have the option to investigate their future risk of developing diseases like Alzheimer’s disease (AD). This knowledge can benefit people as they start to prepare themselves as well as their families for the disease process. The use of predictive genetic tests will likely increase as technology and genetic marker identification continues to advance. Thus, aligning the clinical practice of predictive genetic testing for Alzheimer’s disease with patient values and preferences has the potential to improve healthcare delivery. Several issues have been identified in this review regarding people’s preference when making a decision to test for AD, which include prediction value (i.e. false-positive/false-negative results), availability of treatments that would prevent or delay onset of AD, and anonymity/confidentiality. Literature indicates the most relevant issues regarding consumer preference for AD genetic testing is predictive value (accuracy). While fewer studies have discussed the effects of treatment availability or anonymity on consumer preference, these issues may become more important as technology continues to advance and public awareness of these issues increases. Future research in the area of consumer behavior with regard to predictive genetic testing is suggested.Most previous studies regarding consumer intent and preference for AD genetic tests have used small samples, convenience samples, or samples which were predominantly Caucasian, female and high socioeconomic status. Additionally, effects of most socio-demographics on the preference for AD genetic test are unclear in the literature. Conflicting results have been found regarding gender, education, income, and culture. An extension of the previous work using a larger and randomized sample may help to provide clearer relationship between these socio-demographics and consumer preference for AD genetic test.

scholarly journals Genetic testing, life insurance, and adverse selection

1997 ◽  
Vol 352 (1357) ◽  
pp. 1063-1066 ◽  
Author(s):  
P. S. Harper
Keyword(s):  
Genetic Testing ◽  
Adverse Selection ◽  
Life Insurance ◽  
Genetic Test ◽  
Genetic Disorders ◽  
Commercial Activity ◽  
Genetic Tests ◽  
Test Information ◽  
Insurance Policies ◽  
The Uk

Life insurance is a key element of the UK social structure in terms of family protection and house purchase; it thus needs to be viewed in this broad context, rather that solely as a commercial activity. Insurers have not so far actively requested genetic tests for life insurance, but have insisted on knowing of and being able to act on existing genetic test information. The main reason given for this has been to avoid servious adverse selection; however, this has never been adequately estimated. Review of the different major categories of Medelian genetic disorders suggests that the scope for adverse selection is extremely limited and that insurers would lose little, and possibly gain more, by foregoing the disclosure and use of this information in relation to life insurance policies of ‘normal’ size and nature. The likely future use in service of genetic tests based on susceptibility or population screening makes it especially important that the issue is rapidly resolved for Menelian disorders; so far there is no sign that insurers are willing to achieve this.

scholarly journals Genetic testing for Bardet-Biedl syndrome

2017 ◽  
Vol 1 (s1) ◽  
pp. 14-16
Author(s):  
Andi Abeshi ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Bardet Biedl Syndrome

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in 160 000, and is caused by mutations in the ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 and WDPCP genes. The clinical diagnosis of BBS is based on four primary features or three primary features plus two secondary features. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for Norrie disease

2017 ◽  
Vol 1 (s1) ◽  
pp. 77-79
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Norrie Disease

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its prevalence is currently unknown. Inheritance is X-linked recessive. Clinical diagnosis is based on clinical findings, color vision testing, optical coherence tomography, ophthalmological examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Guidelines for Audiologists on the Benefits and Limitations of Genetic Testing

2015 ◽  
Vol 24 (4) ◽  
pp. 451-461 ◽  
Author(s):  
Danielle Mercer
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Genetic Test ◽  
Test Results ◽  
Pertinent Literature ◽  
Potential Health ◽  
Genetic Test Results ◽  
Genetic Patterns ◽  
Children With Hearing Loss ◽  
Genetics Referral

Purpose This tutorial provides information to aid audiologists in determining when a referral for a genetics evaluation is appropriate for a patient with hearing loss. Direction is given on discussing the benefits and limitations of genetic testing with parents of children with hearing loss. Method Genetic patterns of inheritance are reviewed, particularly in reference to syndromic and nonsyndromic forms of hearing loss. A review of pertinent literature was performed. Conclusion Audiologists are in a unique position to facilitate investigation into the etiology of a patient's hearing loss. This is of high importance in genetic etiologies because the diagnosis can provide information on recurrence risks and other potential health implications. Suggestions are made to help audiologists recognize when a genetics referral is warranted, counsel patients and their parents about the benefits and limitations of genetic testing, and interpret genetic test results.

Sign in / Sign up

Export Citation Format

Share Document