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1.
J Genet Couns ; 31(2): 479-488, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34570930

RESUMO

For the past two decades, the guidelines put forth by the American College of Medical Genetics and Genomics (ACMG) detailing providers' clinical responsibility to recontact patients have remained mostly unchanged, despite evolving variant interpretation practices which have yielded substantial rates of reclassification and amended reports. In fact, there is little information regarding genetic counselors' roles in informing patients of reclassified variants, or the process by which these amended reports are currently being handled. In this study, we developed a survey to measure current experiences with amended variant reports and preferences for ideal management, which was completed by 96 genetic counselors from the United States and Canada. All respondents indicated they were the individuals responsible for disclosing initial positive genetic testing results and any clinically actionable reclassified variant reports, and over half (56%) received at least a few amended variant reports each year. Nearly a quarter (20/87) of respondents reported having a standard operating procedure (SOP) for managing amended reports and all were very satisfied (12/20) or satisfied (8/20) with the SOP. Of those without a protocol, 76% (51/67) would prefer to have an SOP implemented. Respondents reported a preference for (1) laboratories to send amended variant reports directly to the genetic counselor or ordering physician through email or an online portal, and (2) notification to patients ideally occurring through a phone call. In the event that the original genetic counselor is inaccessible, respondents reported a preference for reports to be sent directly to another genetic counselor (36%) on the team or the clinic in general (27%). Information from this study provides insight into the current practices of genetic counselors as applied to amended reports and what improvements may increase the efficiency of the reporting process. Moreover, these results suggest a need for an updated statement addressing duty to recontact, specifically as it applies to amended variant reports.


Assuntos
Conselheiros , Dever de Recontatar , Aconselhamento Genético/métodos , Testes Genéticos , Humanos , Inquéritos e Questionários , Estados Unidos
2.
J Genet Couns ; 31(2): 554-564, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34716741

RESUMO

Recontacting former patients regarding new genetic information is currently not standard care but might be implemented in the future. Little information is available on the implications of this practice from the point of view of former patients. The aim of this study was to investigate preferences for recontact when new genetic information becomes available among patients tested for BRCA pathogenic variants. We further wanted to investigate whether having a high or low information-seeking coping style (monitoring) impacts preferences. Preferences for recontact were assessed using a self-constructed questionnaire. The Threatening Medical Situations Inventory (TMSI) was used to measure monitoring coping style. The questionnaires were sent to 500 randomly selected patients who had previously been tested for BRCA pathogenic variants within the time frame 2001-2014 at one genetic clinic in Norway. We received 323 completed questionnaires. Most respondents wanted to be recontacted with advances in genetic medicine (81.1%) and to receive highly personalized updates. Genetic counselors/geneticists were believed to be most responsible for recontact. There was a significant relationship between being a high monitor and wanting recontact to learn about own cancer risk and receive ongoing support. Patients have a high interest in being recontacted. The findings indicated a tendency for high monitors to prefer more detailed and personalized information.


Assuntos
Conselheiros , Dever de Recontatar , Adaptação Psicológica , Proteína BRCA1/genética , Proteína BRCA2 , Testes Genéticos , Humanos , Preferência do Paciente
3.
Am J Hum Genet ; 108(12): 2224-2237, 2021 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-34752750

RESUMO

Over 100 million research participants around the world have had research array-based genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been offered return of actionable genomic findings (gRoR). Between 2017 and 2021, we analyzed genomic results from 36,417 participants in the Mass General Brigham Biobank and offered to confirm and return pathogenic and likely pathogenic variants (PLPVs) in 59 genes. Variant verification prior to participant recontact revealed that GT falsely identified PLPVs in 44.9% of samples, and GT failed to identify 72.0% of PLPVs detected in a subset of samples that were also sequenced. GT and GS detected verified PLPVs in 1% and 2.5% of the cohort, respectively. Of 256 participants who were alerted that they carried actionable PLPVs, 37.5% actively or passively declined further disclosure. 76.3% of those carrying PLPVs were unaware that they were carrying the variant, and over half of those met published professional criteria for genetic testing but had never been tested. This gRoR protocol cost approximately $129,000 USD per year in laboratory testing and research staff support, representing $14 per participant whose DNA was analyzed or $3,224 per participant in whom a PLPV was confirmed and disclosed. These data provide logistical details around gRoR that could help other investigators planning to return genomic results.


Assuntos
Bancos de Espécimes Biológicos , Doença/genética , Variação Genética , Genoma Humano , Genômica , Adulto , Estudos de Coortes , DNA , Revelação , Dever de Recontatar , Feminino , Pesquisa em Genética , Testes Genéticos , Genômica/economia , Genômica/normas , Genômica/tendências , Humanos , Consentimento Livre e Esclarecido , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
4.
Hum Genet ; 140(12): 1695-1708, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34537903

RESUMO

Variants of uncertain significance (VUS) are frequently reclassified but recontacting patients with updated results poses significant resource challenges. We aimed to characterize public and patient preferences for being recontacted with updated results. A discrete choice experiment (DCE) was administered to representative samples of the Canadian public and cancer patients. DCE attributes were uncertainty, cost, recontact modality, choice of results, and actionability. DCE data were analyzed using a mixed logit model and by calculating willingness to pay (WTP) for types of recontact. Qualitative interviews exploring recontact preferences were analyzed thematically. DCE response rate was 60% (n = 1003, 50% cancer patient participants). 31 participants were interviewed (11 cancer patients). Interviews revealed that participants expected to be recontacted. Quantitatively, preferences for how to be recontacted varied based on certainty of results. For certain results, WTP was highest for being recontacted by a doctor with updates ($1075, 95% CI: $845, $1305) and for contacting a doctor to request updates ($1038, 95% CI: $820, $1256). For VUS results, WTP was highest for an online database ($1735, 95% CI: $1224, $2247) and for contacting a doctor ($1705, 95% CI: $1102, $2307). Qualitative data revealed that preferences for provider-mediated recontact were influenced by trust in healthcare providers. Preferences for a database were influenced by lack of trust in providers and desire for control. Patients and public participants support an online database (e.g. patient portal) to recontact for VUS, improving feasibility, and provider-mediated recontact for certain results, consistent with usual care.


Assuntos
Dever de Recontatar , Testes Genéticos , Preferência do Paciente , Adulto , Comportamento de Escolha , Feminino , Gastos em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Portais do Paciente , Opinião Pública , Inquéritos e Questionários
5.
Genet Med ; 23(9): 1738-1745, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34007001

RESUMO

PURPOSE: Variant classifications and gene-disease relationships may evolve. Professional societies have suggested patients share the responsibility to remain up-to-date on the implications genetic results have on their health, and that novel methods of recontact are needed. GenomeConnect, the ClinGen patient registry, has implemented a process to provide variant classification and gene-disease relationship updates to participants. Here, we report on our experience with this recontacting process. METHODS: GenomeConnect shares data with ClinVar and Matchmaker Exchange enabling the identification of updates to variant classifications and gene-disease relationships. For any updates identified, the reporting laboratory is contacted, and updates are shared with participants opting to receive them. RESULTS: Of 1,419 variants shared with ClinVar by GenomeConnect, 49 (3.4%) variant reclassifications were identified and 34 were shared with participants. Of 97 candidate genes submitted to Matchmaker Exchange, 10 (10.3%) gene-disease relationships have been confirmed and 9 were shared with participants. Details available from a subset of participants highlight that updated information is not always shared with the patient by testing laboratories. CONCLUSION: Patient registries can provide a mechanism for patients and their providers to remain informed about changes to the interpretation and clinical significance of their genetic results, leading to important implications for care.


Assuntos
Dever de Recontatar , Testes Genéticos , Bases de Dados Genéticas , Variação Genética , Humanos , Sistema de Registros
6.
Genet Med ; 23(6): 1163-1166, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33603197

RESUMO

PURPOSE: We sought to determine preferences of biobank participants whose samples were tested for clinically actionable variants but did not respond to an initial invitation to receive results. METHODS: We recontacted a subsample of participants in the Kaiser Permanente Washington/University of Washington site of the Electronic Medical Records and Genomics (eMERGE3) Network. The subsample had provided broad consent for their samples to be used for research but had not responded to one initial mailed invitation to receive their results. We sent a letter from the principal investigators with phone outreach. If no contact was made, we sent a certified letter stating our assumption that participant had actively refused. We collected reasons for declining. RESULTS: We recontacted 123 participants. Response rate was 70.7% (n = 87). Of these, 62 (71.3%) declined the offer of returned results and 25 (28.7%) consented. The most common reasons provided for refusal included not wanting to know (n = 22) and concerns about insurability (n = 28). CONCLUSION: Efforts to recontact biobank participants can yield high response. Though active refusal upon recontact was common, our data do not support assuming initial nonresponse to be refusal. Future research can work toward best practices for reconsenting, especially when clinically actionable results are possible.


Assuntos
Bancos de Espécimes Biológicos , Dever de Recontatar , Genômica , Humanos , Telefone , Washington
7.
BMJ Open ; 10(11): e040766, 2020 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-33247021

RESUMO

INTRODUCTION: The case for de-risking neurodegenerative research and development through highly informative experimental medicine studies early in the disease process is strong. Such studies depend on the availability of genetic as well as high-granularity, longitudinal, phenotypic data in healthy ageing individuals who can be recruited into early phase trials on the basis of their perceived dementia risk. Until now the creation of such research infrastructure has been hampered by the lack of expense and time required to gather the rich longitudinal data needed for adequate risk stratification. Dementias Platform UK (DPUK) is a public-private partnership that brings together data from over 40 cohorts in a standardised framework, which represent an until now unavailable opportunity to create such a resource through a streamlined brain health recontact platform based on existing cohorts, as well as prospectively collected data. METHODS AND ANALYSIS: The DPUK recontact platform consists of an opt-in (Great Minds, GM) and an opt-out component (Clinical Studies Register, CSR). GM requires invited DPUK cohort participants to consent to targeted recontact at the GM website and then to provide self-reported demographic and medical history information relevant to recruitment into clinical studies. Participants complete prospective browser-based and smartphone-based cognitive tests and are given the option for remote genetic and actigraphy testing. The GM data are linked to the retrospective DPUK cohort dataset, including genotypic and longitudinal phenotypic data. The CSR is a solution for cohorts explicitly allowing targeted recontact. Approved studies provide prescreening criteria on the basis of the CSR/GM dataset, and individuals meeting these criteria are offered participation directly (GM) or through the parent DPUK cohort (CSR). Descriptive statistics will be used to summarise the outcomes relevant to the number of participants engaged with the register. Its sample size is not defined but is limited by the size of the DPUK parent cohorts. ETHICS AND DISSEMINATION: The database was approved by the South Central-Oxford C Research Ethics Committee, reference 18/SC/0268 on the 27th of June 2018 and amended on the 1st of November 2019. The availability of the register to researchers will be disseminated through DPUK's official communication channels as well as national and international scientific meetings.


Assuntos
Demência , Dever de Recontatar , Encéfalo , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Reino Unido
8.
Eur J Med Genet ; 63(2): 103642, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30904667

RESUMO

Sequencing technology is increasing the scale of information that could benefit patients who have been tested in the past. This raises the question whether professionals have a duty to recontact such patients or their families. There is currently no clear basis for a legal duty to recontact, and professional guidelines are limited. We conducted interviews with 14 senior professionals from the Netherlands and UK to obtain a range of opinions on what obligations are estimated to be possible or desirable. There was (near) consensus that a lack of resources currently inhibits recontacting in clinical practice, that recontacting is less desirable in research, that information on recontacting should be part of informed consent, and that a legal duty should follow professional standards. There was a diversity of opinions on the desirability of a more systematic approach, potential obligations in hybrid clinical-research projects, and who should bear responsibility for seeking updates. Based on the literature, legal framework and these interviews, we conclude that a general duty to recontact is unlikely, but that in specific circumstances a limited duty may apply if the benefit to the individual is significant and the burden on professionals not too extensive. The variation in opinion demonstrates that further deliberations are desirable. The development of guidelines-a process the European Society of Human Genetics has begun-is important to ensure that the courts, in deciding a recontacting case, can take into account what professionals consider responsible standards in this field.


Assuntos
Dever de Recontatar/ética , Guias como Assunto , Coleta de Dados , Dever de Recontatar/legislação & jurisprudência , Ética em Pesquisa , Genética Médica/ética , Humanos , Consentimento Livre e Esclarecido , Entrevistas como Assunto , Países Baixos , Pacientes/legislação & jurisprudência , Sujeitos da Pesquisa/legislação & jurisprudência , Reino Unido
9.
J Genet Couns ; 28(6): 1198-1207, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31553108

RESUMO

In hereditary cancer, multigene panel testing is currently replacing older single-gene approaches. Patients whose tests were previously uninformative could benefit from updated testing. Research suggests that patients desire to be recontacted about updated genetic testing, but few studies have tested the efficacy of recontact efforts. This study investigated the outcomes of a recontact effort in a hereditary cancer clinic and explored the impact of four different recontact letters, randomized in a 2X2 factorial design. Patients who had negative genetic testing for single genes or conditions were mailed letters inviting them to schedule an appointment to discuss updated testing. Patients were randomized to receive one of four letters and each letter emphasized different implications of updated multigene genetic testing: (a) personal medical management implications, (b) implications for family members, (c) both personal and family implications or (d) a control letter. The proportion of patients who arrived for appointments was assessed approximately 7 months after mailing along with associations with patient demographics and type of letter received. Letters were mailed to 586 patients who had initial testing between 2001 and 2015. Most patients were white (78%) and female (97%) with private insurance (65%). At 7 months, 25 patients (4.3%, 95% CI: 2.6% to 5.9%) had arrived for an appointment. Older age was significantly associated with response rate (p = .01), while type of recontact letter was not (p = .54). This study suggests that recontacting patients about updated genetic testing by mail does not yield a large response. It also suggests that personal and/or familial implications do not seem to be significant factors that determine response rate. Nevertheless, results provide meaningful information for cancer clinics about the outcomes of recontact efforts via informational letter.


Assuntos
Dever de Recontatar , Predisposição Genética para Doença , Testes Genéticos/métodos , Neoplasias/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
10.
PLoS One ; 14(7): e0220053, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31344071

RESUMO

OBJECTIVE: To compare costs and efficacy of reflex and recall prenatal DNA screening for trisomy 21, 18 and 13 (affected pregnancies). In both methods women have Combined test markers measured. With recall screening, women with a high Combined test risk are recalled for counselling and offered a DNA blood test or invasive diagnostic testing. With reflex screening, a DNA analysis is automatically performed on plasma collected when blood was collected for measurement of the Combined test markers. METHODS: Published data were used to estimate, for each method, using various unit costs and risk cut-offs, the cost per woman screened, cost per affected pregnancy diagnosed, and for a given number of women screened, numbers of affected pregnancies diagnosed, unaffected pregnancies with positive results, and women with unaffected pregnancies having invasive diagnostic testing. RESULTS: Cost per woman screened is lower with reflex v recall screening: £37 v £38, and £11,043 v £11,178 per affected pregnancy diagnosed (DNA £250, Combined test markers risk cut-off 1 in 150). Reflex screening results in similar numbers of affected pregnancies diagnosed, with 100-fold fewer false-positives and 20-fold fewer women with unaffected pregnancies having invasive diagnostic testing. CONCLUSIONS: Reflex DNA screening is less expensive, more cost-effective, and safer than recall screening.


Assuntos
Síndrome de Down/diagnóstico , Testes Genéticos , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adulto , Assistência ao Convalescente/economia , Assistência ao Convalescente/métodos , Biomarcadores/sangue , Análise Custo-Benefício , Síndrome de Down/economia , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Dever de Recontatar , Reações Falso-Positivas , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Humanos , Idade Materna , Testes para Triagem do Soro Materno/economia , Testes para Triagem do Soro Materno/métodos , Testes para Triagem do Soro Materno/estatística & dados numéricos , Gravidez , Primeiro Trimestre da Gravidez/sangue , Diagnóstico Pré-Natal/estatística & dados numéricos , Prevalência , Recusa de Participação/estatística & dados numéricos , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/economia , Síndrome da Trissomía do Cromossomo 18/epidemiologia , Síndrome da Trissomía do Cromossomo 18/genética
11.
J Genet Couns ; 28(4): 836-846, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31058402

RESUMO

The duty to recontact continues to be revisited in the field of clinical genetics and is currently relevant for cancer genetic counseling given the transition from single-gene to multi-gene panel testing. We recruited cancer genetic counselors through the National Society of Genetic Counselors list-serv to complete an online survey assessing current practices and perspectives regarding recontacting patients about diagnostic genetic tests. Forty-one percent of respondents reported that they have recontacted patients to offer updated (new) diagnostic genetic testing (40/97). A majority (61%, 17/28), of genetic counselors who reported recontact specifically for panel testing indicated that the availability of management recommendations for genes not previously tested routinely was an important factor in the decision to recontact. All respondents who recontacted patients reported "improved patient care" as a perceived benefit. Respondents indicated that recontact is mostly a patient responsibility (49%), followed by a shared responsibility between the provider and patient (43%). Few respondents (2%) reported a uniform ethical duty to recontact patients regarding new and updated testing, while the majority (89%) felt that there was some degree of ethical duty. A greater percentage of those who reported past recontact practices reported intention to recontact in the future (p = 0.001). There is little consensus among the genetic counselor respondents about how to approach the recontacting of patients to offer updated genetic testing.


Assuntos
Conselheiros , Dever de Recontatar , Ética Profissional , Aconselhamento Genético/normas , Testes Genéticos/normas , Aconselhamento Genético/ética , Humanos , Assistência ao Paciente
14.
J Genet Couns ; 28(4): 750-759, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30969465

RESUMO

The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. A modified grounded theory approach was used to guide data collection and thematic analysis. Qualitative coding was shared by the research team to triangulate analysis. The practice of recontact was viewed by participants as acceptable and was associated with minimal emotional distress. The majority of men understood that they may be above population risk of prostate cancer, although evidence was still emerging. Men reported high engagement with personal and familial health, including regular screening practices and familial risk communication. Findings suggest that men's carrier status and beliefs about the actionability of the new cancer risk information influence their response to recontact. Recontact practices that include the offer of risk management strategies may lead to improved patient outcomes (e.g., reduced cancer worry and increased health engagement), if perceived as valuable by recipients.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/complicações , Dever de Recontatar , Neoplasias da Próstata/complicações , Adulto , Austrália , Neoplasias Colorretais Hereditárias sem Polipose/psicologia , Saúde da Família , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Fatores de Risco
15.
Am J Hum Genet ; 104(4): 578-595, 2019 04 04.
Artigo em Inglês | MEDLINE | ID: mdl-30951675

RESUMO

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.


Assuntos
Dever de Recontatar , Responsabilidade pela Informação/legislação & jurisprudência , Testes Genéticos/normas , Genética Médica/normas , Genômica/normas , Austrália , Canadá , Ética em Pesquisa , Europa (Continente) , Genética Médica/educação , Genética Médica/ética , Humanos , Responsabilidade Legal , Sujeitos da Pesquisa , Sociedades Médicas , Estados Unidos
17.
Eur J Hum Genet ; 27(2): 169-182, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30310124

RESUMO

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.


Assuntos
Dever de Recontatar , Aconselhamento Genético/ética , Testes Genéticos/ética , Guias de Prática Clínica como Assunto , União Europeia , Aconselhamento Genético/legislação & jurisprudência , Aconselhamento Genético/normas , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/normas , Humanos , Sociedades Médicas/normas
18.
Eur J Hum Genet ; 26(12): 1743-1751, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30143804

RESUMO

There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.


Assuntos
Revelação , Dever de Recontatar , Testes Genéticos/normas , Consentimento Livre e Esclarecido , Análise de Sequência de DNA/normas , Aconselhamento Genético/normas , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Humanos , Polimorfismo Genético , Análise de Sequência de DNA/estatística & dados numéricos
19.
Eur J Hum Genet ; 26(7): 946-954, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29681620

RESUMO

Advances in genomic medicine are improving diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. The issue of recontacting is becoming more important with increased integration of genomics in 'mainstream' medicine. Empirical evidence is needed to advance the discussion over whether and how recontacting should be implemented. We administered a web-based survey to genetic services in European countries to collect information about existing infrastructures and practices relevant to recontacting patients. The majority of the centres stated they had recontacted patients to update them about new significant information; however, there were no standardised practices or systems in place. There was also a multiplicity of understandings of the term 'recontacting', which respondents conflated with routine follow-up programmes, or even with post-test counselling. Participants thought that recontacting systems should be implemented to provide the best service to the patients and families. Nevertheless, many barriers to implementation were mentioned. These included: lack of resources and infrastructure, concerns about potential negative psychological consequences of recontacting, unclear operational definitions of recontacting, policies that prevent healthcare professionals from recontacting, and difficulties in locating patients after their last contact. These barriers are also intensified by the highly variable development (and establishment) of the specialties of medical genetics and genetic counselling across different European countries. Future recommendations about recontacting need to consider these barriers. It is also important to reach an 'operational definition' that can be useful in different countries.


Assuntos
Dever de Recontatar , Aconselhamento Genético/tendências , Serviços em Genética/tendências , Genética Médica/tendências , Europa (Continente) , Genômica/tendências , Pessoal de Saúde , Humanos , Inquéritos e Questionários
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