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1.
Per Med ; 17(5): 345-359, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32804044

RESUMEN

Aim: Precision medicine research recruitment poses challenges. To better understand factors impacting recruitment, this study assessed hypothetical willingness, public opinions of and familiarity with precision medicine research. Materials & methods: Adult attendees (n = 942) at the 2017 Minnesota State Fair completed an electronic survey. Results: Few respondents had heard of 'precision medicine' (18%), and familiarity came mostly from media (43%). Fifty-six percent expressed hypothetical willingness to participate in precision medicine research. Significant predictors of willingness were: comfort with unconditional research; perceiving precision medicine research as beneficial, trustworthy and confidential; having a graduate degree; comfort with self- but not family-participation; and familiarity with precision/personalized medicine. Conclusion: This study identified predictors of hypothetical willingness to participate in precision medicine research. Alternative recruitment strategies are needed.

2.
J Genet Couns ; 2020 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-32602181

RESUMEN

Use of direct-to-consumer genetic testing (DTC-GT) is rapidly growing in the United States. Yet little is known about how specific populations like domestic and intercountry adoptees use DTC-GT. Adoptees often have little to no biological family history, which may affect how they use DTC-GT. This study aimed to examine adult adoptees' motivations to pursue DTC-GT, experiences completing a test, and reasons for not completing one. An online survey consisting of 41 closed-ended questions was distributed to domestic and intercountry adult adoptees in a snowball convenience method addressing seven areas: (a) demographics and adoption experience, (b) family health history, (c) familiarity with DTC-GT, (d) actual DTC-GT experience, (e) hypothetical DTC-GT experience, (f) health results, and (g) satisfaction with DTC-GT. Descriptive statistics were performed on participant demographics and adoption characteristics, and chi-squared and Fisher's exact tests compared demographics and adoption characteristics by familiarity with DTC-GT and completion of DTC-GT. A total of 117 adoptees met criteria and completed the survey. Adoptees were motivated to use DTC-GT to search for biological family (83.0%), verify race and ethnicity (72.3%), and find out where ancestors came from (66.0%). Most participants completed DTC-GT (80.3%); completion was significantly associated with searching for biological relatives (p < 0.01) and with older age (p = 0.05). For those who received health information (59.6%), 44.4% of participants reported talking with a health provider. Adoptees are using DTC-GT to search for biological relatives, confirm their ethnicity and ancestry, and gain information about their health. Genetic counselors and health professionals should be prepared to address DTC-GT with adoptees as nearly half discussed their results with providers; findings from this study provide insight into how this unique population uses DTC-GT, and the possibility of patient-centered, tailored care for adopted patients who do not have family health history.

3.
J Genet Couns ; 2020 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-32583486

RESUMEN

Monitoring and blunting are coping styles that characterize how people respond when faced with personally threatening situations. High monitors tend to pay more attention to, scan for, and amplify threatening cues; high blunters tend to avoid information and seek distractions when faced with a threatening event. This study sought to investigate possible differential effects of monitoring and blunting coping styles on information preferences in a hypothetical cancer diagnosis scenario in the adult general public of Minnesota. In a survey administered at a large public venue (2016 Minnesota State Fair), participants were asked to imagine they carried a gene mutation and were diagnosed with colon cancer. They indicated their information preference [modified Cassileth Information Styles Questionnaire (MCISQ)], completed two coping style measures [Miller Behavioral Style Scale (MBSS) and Threatening Medical Situations Inventory (TMSI)], rated their perceived severity of colon cancer (low, moderate, high), and answered demographic questions. Eight hundred fifty-five individuals provided usable data. Participants classified as monitors on the TMSI had significantly higher MCISQ scores (i.e., preferred more information) than those classified as blunters (p = .004). Those scoring high on monitoring and low on blunting on the MBSS preferred significantly more information than those scoring high on both monitoring and blunting (p = .04). Linear regression analysis revealed being a monitor (TMSI), scoring high on monitoring (MBSS), rating colon cancer as more severe, and having a higher education level were significant positive predictors of MCISQ scores. Results suggest individual differences in coping style, perceived severity, and education level affect desire for information. Genetic counselors should consider these patient characteristics (e.g., asking patients about their information preferences) and tailor their approaches accordingly.

4.
J Genet Couns ; 29(2): 147-165, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32144851

RESUMEN

As genetic counseling services expand and reach a wider catchment of the population, there is a critical need to better understand the impact of services on a greater diversity of patients. We conducted a systematic review to evaluate genetic counseling experiences and outcomes among racial and ethnic minorities. Six databases extracted articles published from 2005 to 2019 that assessed genetic counseling participation, knowledge and awareness, motivators, barriers, perceptions, and outcomes for racial and ethnic minority populations in the United States. Genetic counseling outcomes were categorized using the Framework for Outcomes of Clinical commUnication Services. A total of 1,227 abstracts were identified, of which 23 papers met inclusion criteria. Results suggest the possibility of racial and ethnic differences in some genetic counseling experiences and outcomes but noted differences were not adequately replicated between studies. The few included studies differed greatly in aims, methods, and results, which made comparison across study designs challenging and effectively barred thematic analysis. Additional research is needed that includes more study populations and settings with patients of diverse racial and ethnic backgrounds, as well as more structured study designs that allow for elucidations of differences between White and non-White populations.

5.
Mol Genet Genomic Med ; 8(2): e1099, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31867882

RESUMEN

BACKGROUND: Racial/ethnic minority populations in the United States are consistently underrepresented in genetic research. Large-scale public participation is required to ensure discoveries from precision medicine research are applicable to everyone. To evaluate views toward and facilitators of participation among minority populations in the United States, we conducted a systematic review of literature. METHODS: Six databases were searched for articles published from 2005 to 2018 assessing minority populations' views and/or willingness to participate in genetic research. A thematic framework was applied to extracted data to synthesize findings, and the Socio-Ecological Model was used to evaluate papers. RESULTS: Review of 2,229 titles and abstracts identified 27 papers (n = 8 qualitative, n = 19 quantitative). Themes included knowledge of genetics, engagement in research, facilitators and barriers to participation, and cultural considerations. Understanding of genetics was low, yet the majority of participants were willing to participate in genetic research among all populations included in the literature (range: 57%-97%). Recommendations for research included utilizing community-based participatory approaches, evaluating participants' informational needs, incentivizing participation, and providing direct benefits (e.g., genetic test results). CONCLUSION: Results could influence future study designs that incorporate all levels of the Socio-Ecological Model and better meet the needs of underrepresented groups, thereby ensuring precision medicine research findings are applicable to all.

7.
Am J Med Genet A ; 179(7): 1205-1213, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31074578

RESUMEN

Minnesota became the fourth state to begin newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD) in 2017. As there is limited retrospective data available on NBS for X-ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0-LPC) screening results of 67,836 infants and confirmatory testing (ABCD1 gene and serum VLCFA analysis) for screen positives were obtained. Fourteen infants (nine males, five females) screened positive for X-ALD and all were subsequently confirmed to have X-ALD, with zero false positives. The birth prevalence of X-ALD in screened infants was 1 in 4,845 and 1 in 3,878 males, more than five times previous reported incidences. Pedigrees of affected infants were analyzed, and 17 male (mean age of 17) and 24 female relatives were subsequently diagnosed with X-ALD. Phenotypes of these family members included self-reported mild neuropathy symptoms in two males and seven females, and childhood cerebral disease (ccALD) and adrenal insufficiency in one male. We observed fewer cases of ccALD and adrenal insufficiency than expected in male family members (5.9% of males for both) compared to previous observations. Together, these findings suggest that the spectrum of X-ALD may be broader than previously described and that milder cases may previously have been underrepresented. Other challenges included a high frequency of variants of uncertain significance in ABCD1 and an inability to predict phenotypic severity. We posit that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population-based screening for X-ALD.

8.
J Community Genet ; 10(2): 229-236, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30206796

RESUMEN

Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA. Primary care providers are well-positioned to identify FH cases; however, universal FH screening is not routinely implemented in practice. The aim of the present study was to identify perceived barriers to FH screening among primary care physicians in Minnesota. A questionnaire assessed FH screening practices, knowledge, and perceived barriers to FH screening. The questionnaire, sent electronically to internal and family medicine physicians in Minnesota (N = 1932) yielded a conservative estimated response rate of 9% (N = 173). Although 92% of participants reported themselves responsible for identifying individuals with FH, 30% did not routinely perform screening in practice. Only 50% of participants were able to correctly identify the risk of FH to first-degree relatives of individuals with FH. Challenges incorporating lipid and family history data was the most frequently endorsed barrier to FH screening (34%). A majority of participants endorsed a clinical decision support system that flags individuals at high risk for FH (62%) and an algorithm with cholesterol levels and lipid disorders (56%) as means of facilitating FH screening. Although the generalizability of the findings is unknown, the results underscore the need for increased provider education regarding FH and suggest an FH screening strategy incorporating a clinical decision support system, screening algorithm, and support from other healthcare providers.

9.
Health Aff (Millwood) ; 37(5): 801-808, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29733730

RESUMEN

Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify, inform, and manage those who are also at risk. We conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. We searched for relevant peer-reviewed literature in the period 1990-2017 and reviewed 122 studies. Finally, we described 45 statutes and regulations related to the use and release of genetic information across the fifty states. We sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but we found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach. Major barriers to cascade screening delivery include suboptimal communication between the proband and family and geographic barriers to obtaining genetic services. Few US studies examined interventions for cascade screening or used rigorous study designs such as randomized controlled trials. Moving forward, there remains an urgent need to conduct rigorous intervention studies on cascade screening in diverse US populations, while accounting for state policy considerations.


Asunto(s)
Enfermedades Genéticas Congénitas/diagnóstico , Predisposición Genética a la Enfermedad/epidemiología , Pruebas Genéticas/métodos , Tamizaje Masivo/métodos , Femenino , Enfermedades Genéticas Congénitas/epidemiología , Enfermedades Genéticas Congénitas/genética , Humanos , Masculino , Linaje , Estados Unidos
10.
J Genet Couns ; 27(2): 329-338, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29362948

RESUMEN

In 2009, the National Society of Genetic Counselors Service (NSGC) Delivery Model Task Force defined genetic counseling service delivery models including telephone (genetic counseling provided remotely by telephone) and telegenetics (counseling provided remotely using videoconferencing). Little is known about the experience of genetic counselors practicing telemedicine in the USA. We sought to evaluate perceived satisfaction, advantages, disadvantages, and barriers to the practice and implementation of telegenetics by practicing genetic counselors. A 21-question online survey was distributed via the NSGC's member directory. Descriptive statistics and a thematic analysis were used to analyze data. A total of 344 surveys were completed of which 235 (68.3%) respondents had delivered genetic counseling via telemedicine and 109 (36.6%) had not. Overall genetic counseling providers who had provided telegenetics were satisfied or very satisfied with their position (91%) and those who were not performing telegenetics were at least slightly interested in a telehealth position (92%).The most common appealing reasons for working in or wanting to work in telemedicine included an innovative approach to healthcare delivery, aspects of remote positions such as the ability to work from home, and flexibility of hours. Unappealing characteristics of telemedicine included the inability to see nonverbals, limited psychosocial counseling, and limited social interaction with colleague that is associated with remote positions. Barriers to implementation of telegenetics were noted by 53% of respondents with the largest barrier being billing and reimbursement. The results of this work suggest that telegenetics service organizations could consider increasing social interactions, attempting to use the preferred method of care (video) to increase ability to see nonverbals, offering flexible work hours, and allowing time to address psychosocial issues as they arise in consultations.


Asunto(s)
Consejeros/psicología , Asesoramiento Genético/métodos , Telemedicina/métodos , Adulto , Humanos , Satisfacción en el Trabajo , Masculino , Derivación y Consulta , Encuestas y Cuestionarios , Teléfono , Comunicación por Videocoferencia
11.
Pharmacotherapy ; 37(9): 990-999, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28672074

RESUMEN

Increased use of pharmacogenomic (PGx) testing in the clinical setting has revealed a number of challenges to providing this service. PGx is an important component of precision medicine that brings together the fields of genetics and clinical pharmacology. A model that incorporates a multidisciplinary approach to implementation and information delivery may be the most beneficial to patients and providers. In this review, translational considerations in the provision of PGx testing and counseling services are described. Specifically, we report on the selection of PGx tests, the provision of patient education and counseling, and examples of PGx service delivery models that incorporate counseling by pharmacists and genetic counselors. Examples of ancillary risks associated with PGx testing, testing of children, and familial implications of testing are reviewed. Through multispecialty partnerships, including genetic counselors and pharmacists, implementation obstacles to PGx testing can be overcome to provide quality precision medicine to patients.


Asunto(s)
Asesoramiento Genético/métodos , Pruebas Genéticas/métodos , Colaboración Intersectorial , Farmacogenética/métodos , Asesoramiento Genético/tendencias , Pruebas Genéticas/tendencias , Humanos , Educación del Paciente como Asunto/métodos , Educación del Paciente como Asunto/tendencias , Farmacogenética/tendencias
12.
J Genet Couns ; 25(5): 993-1001, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-26781258

RESUMEN

Outcomes in the field of genetic counseling have not been well-defined or categorized, despite pressures to provide evidence-based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide-ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi-structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer (n = 20), general genetics (n = 40), prenatal genetics (n = 11), and "other" (n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well-defined and comprehensive set of outcomes.


Asunto(s)
Consejeros/normas , Asesoramiento Genético/normas , Evaluación del Resultado de la Atención al Paciente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Investigación Cualitativa , Adulto Joven
14.
J Genet Couns ; 25(2): 359-72, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26454646

RESUMEN

The development of hereditary cancer genetic testing panels has altered genetic counseling practice. Mutations within certain genes on cancer panels pose not only a cancer risk, but also a reproductive risk for autosomal recessive conditions such as Fanconi anemia, constitutional mismatch repair deficiency syndrome, and ataxia telangiectasia. This study aimed to determine if genetic counselors discuss reproductive risks for autosomal recessive conditions associated with genes included on cancer panels, and if so, under what circumstances these risks are discussed. An on-line survey was emailed through the NSGC list-serv. The survey assessed 189 cancer genetic counselors' experiences discussing reproductive risks with patients at risk to carry a mutation or variant of uncertain significance (VUS) in a gene associated with both an autosomal dominant cancer risk and an autosomal recessive syndrome. Over half (n = 82, 55 %) reported having discussed reproductive risks; the remainder (n = 66, 45 %) had not. Genetic counselors who reported discussing reproductive risks primarily did so when patients had a positive result and were of reproductive age. Reasons for not discussing these risks included when a patient had completed childbearing or when a VUS was identified. Most counselors discussed reproductive risk after obtaining results and not during the informed consent process. There is inconsistency as to if and when the discussion of reproductive risks is taking place. The wide variation in responses suggests a need to develop professional guidelines for when and how discussions of reproductive risk for autosomal recessive conditions identified through cancer panels should occur with patients.


Asunto(s)
Aberraciones Cromosómicas , Comunicación , Genes Relacionados con las Neoplasias/genética , Genes Recesivos/genética , Asesoramiento Genético/métodos , Pruebas Genéticas/métodos , Síndromes Neoplásicos Hereditarios/genética , Conducta Reproductiva , Medición de Riesgo , Adulto , Femenino , Adhesión a Directriz , Humanos , Masculino , Persona de Mediana Edad , Mutación , Síndromes Neoplásicos Hereditarios/diagnóstico , Diseño de Software , Encuestas y Cuestionarios , Adulto Joven
15.
J Genet Couns ; 23(6): 910-21, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25236480

RESUMEN

Fanconi anemia (FA) is the most common of the inherited bone marrow failure syndromes with an incidence of approximately 1/100,000 to 1/200,000 live births. FA is a genetically complex and phenotypically heterogeneous condition involving birth defects, bone marrow failure, and cancer predisposition. This rare disease became well known in the genetic counseling community in 2002, when it was identified that biallelic mutations in BRCA2 can cause FA. Knowledge gained from the growing association between FA and breast cancer pathways has brought even more light to the complex genetic issues that arise when counseling families affected by this disease. Genetic counseling issues surrounding a diagnosis of FA affect many different disciplines. This review will serve as a way to cross-link the various topics important to genetic counselors that arise throughout the life of a patient with FA. Issues covered will include: an overview of FA, phenotypic presentation, management and treatment, the genetics and inheritance of FA, cytogenetic and molecular testing options, and the risks to family members of an individual with FA.


Asunto(s)
Anemia de Fanconi/genética , Asesoramiento Genético/métodos , Comunicación Interdisciplinaria , Neoplasias de la Mama/genética , Anemia de Fanconi/diagnóstico , Femenino , Humanos
16.
J Genet Couns ; 21(1): 45-58, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21805222

RESUMEN

Fanconi Anemia (FA) is a rare genetic disease that generally affects children and results in bone marrow failure requiring blood or marrow transplantation for survival. A unique feature of the condition is the long, often many years, waiting period between genetic diagnosis and treatment. This qualitative study looked at the lived experience of parents confronting their child's diagnosis of FA. We aimed to describe factors which parents found helpful or detrimental during the waiting time period and to recommend strategies to support families who will have these experiences in the future. Categories that emerged were: parents' emotional responses, thoughts about FA (which occurred daily for most parents), sources of stress, mechanisms of coping, family dynamics and responses that were supportive and non-supportive. We found that most parents experience stress, uncertainty, and active surveillance throughout the course of the illness. Healthcare professionals, and especially physicians, were agents of both the most and least supportive experiences of parents. Parents described family centered team care as helpful throughout the illness and health professional education as a priority need.


Asunto(s)
Niños con Discapacidad/psicología , Anemia de Fanconi/psicología , Relaciones Padres-Hijo , Padres/psicología , Relaciones Profesional-Familia , Apoyo Social , Adaptación Psicológica , Adulto , Niño , Preescolar , Anemia de Fanconi/terapia , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Autoimagen , Estrés Psicológico/psicología , Encuestas y Cuestionarios , Adulto Joven
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