Abstract：
:Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents' ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.
journal_name
J Genet Counsjournal_title
Journal of genetic counselingauthors
Lisi EC,McCandless SEdoi
10.1007/s10897-015-9879-8subject
Has Abstractpub_date
2016-04-01 00:00:00pages
373-84issue
2eissn
1059-7700issn
1573-3599pii
10.1007/s10897-015-9879-8journal_volume
25pub_type
杂志文章abstract：:Understanding the perceptions of genetic testing by members of the deaf community may help in planning deafness genetics research, especially so in the context of strong adherence to cultural values as found among native Africans. Among Yorubas in Nigeria, deafness is perceived to be caused by some offensive actions o...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-015-9843-7
更新日期：2015-12-01 00:00:00
abstract：:Myotonic dystrophy (DM) is a progressive multi-systemic disorder characterized by myotonia and muscle weakness where currently no effective treatment or cure to prevent or delay the disorder exists. This study used mixed methods to examine the experience of living with DM, in patients and their close relatives. Thirte...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-014-9752-1
更新日期：2015-02-01 00:00:00
abstract：:Stress is an inevitable part of daily life. Studies of graduate student stress exist, but none include genetic counseling students. The present mixed-methods study investigated 225 genetic counseling students' stress and anxiety levels using the State-Trait Anxiety Inventory (STAI; Spielberger et al. 1983), frequency ...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-010-9348-3
更新日期：2011-06-01 00:00:00
abstract：:Presymptomatic identification of disease gene carriers is becoming an increasingly common part of the clinical management of hereditary cancer disorders. With an expected increase in the number of requests for DNA testing and the limited resources for counseling, the amount of time genetic counselors are able to spend...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1023/A:1009468005966
更新日期：2000-06-01 00:00:00
abstract：:Use of genomic information in healthcare is increasing; however data on the needs of consumers of genomic information is limited. The Coriell Personalized Medicine Collaborative (CPMC) is a longitudinal study investigating the utility of personalized medicine. Participants receive results reflecting risk of common com...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-014-9693-8
更新日期：2014-08-01 00:00:00
abstract：:In 2001, a French expert panel recommended that presymptomatic tests should not be carried out on minors in families affected by Li-Fraumeni syndrome (LFS), flying in the face of possible parental demands for such testing. We decided to investigate the legitimacy of such a recommendation. We conducted a national multi...
journal_title：Journal of genetic counseling
pub_type： 杂志文章,多中心研究
doi：10.1007/s10897-012-9556-0
更新日期：2013-06-01 00:00:00
abstract：:Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of indiv...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-017-0141-4
更新日期：2018-02-01 00:00:00
abstract：:Historically in cancer genetic counseling, when a pathogenic variant is found which explains the cancers in the family, at risk family members are offered site-specific testing to identify whether or not they have the previously identified pathogenic variant. Factors such as turnaround times, cost, and insurance cover...
journal_title：Journal of genetic counseling
pub_type：
doi：10.1002/jgc4.1044
更新日期：2019-06-01 00:00:00
abstract：:We studied counselees' expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 20...
journal_title：Journal of genetic counseling
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10897-015-9869-x
更新日期：2016-04-01 00:00:00
abstract：:There is tremendous excitement about the promise of new genomic technologies to transform medical practice and improve patient care. Although the full power of genetic diagnosis has not yet been realized, paradigms of clinical decision-making are changing. In fact, recent policy level changes to promote genetic counse...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-013-9668-1
更新日期：2014-08-01 00:00:00
abstract：:Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to beg...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-012-9483-0
更新日期：2012-06-01 00:00:00
abstract：:Maternal serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) can be used to screen pregnancies for neural tube defects, Down syndrome, Trisomy 18, and pregnancy complications. This article summarizes the most recent information regarding maternal serum screening,...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1023/A:1025648926821
更新日期：1997-12-01 00:00:00
abstract：:We designed and implemented a novel automated negative non-invasive prenatal test (NIPT) result disclosure process using a proprietary, HIPAA-compliant web-based portal. High-risk pregnant patients who opted for NIPT from 04/2017 to 12/2018 were given the option to receive their negative result through the automated p...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1002/jgc4.1127
更新日期：2019-08-01 00:00:00
abstract：:We report a family with an extensive history of colon cancer consistent with hereditary nonpolyposis colorectal cancer (HNPCC). A specific disease causing mutation was identified in affected individuals; p.W714X MLH1 mutation. Given the very young age of onset of cancer in some affected family members, with the younge...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-008-9161-4
更新日期：2008-12-01 00:00:00
abstract：:With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling pr...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-018-0230-z
更新日期：2018-09-01 00:00:00
abstract：:Trisomy 13 and 18 are associated with congenital heart disease. Cardiac palliation has been reported in the literature, but is not usually done in this population. Thus, a multi-disciplinary team may experience controversy in formulating a care plan that includes cardiac intervention. Our objective was to determine di...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-011-9373-x
更新日期：2011-10-01 00:00:00
abstract：:Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genet...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-016-0041-z
更新日期：2017-08-01 00:00:00
abstract：:Studies show teachers play an influential role in the career decision-making process of students and early knowledge of genetic counseling (GC) increases the likelihood students will consider this career option. This quantitative study is the first to explore the presentation of GC and other health care career options...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-009-9217-0
更新日期：2009-06-01 00:00:00
abstract：:CancerGene Connect (CGC) is a web-based program that combines the collection of family and medical history, cancer risk assessment, psychosocial assessment, report templates, a result tracking system, and a patient follow up system. The performance of CGC was assessed in several ways: pre-appointment completion data a...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-014-9732-5
更新日期：2014-12-01 00:00:00
abstract：:A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews wi...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-006-9018-7
更新日期：2006-04-01 00:00:00
abstract：:The genetic testing of children raises many ethical concerns. This paper examines how five position statements from Canada, UK and USA, which present guidelines for good practice in this area produce different recommendations for carrier testing and predictive testing. We find that the genetic information generated th...
journal_title：Journal of genetic counseling
pub_type： 杂志文章,实务指引
doi：10.1007/s10897-005-4840-x
更新日期：2005-08-01 00:00:00
abstract：:In January 1996, the American Board of Genetic Counseling (ABGC) adopted 27 practice-based competencies as a standard for assessing the training of graduate students in genetic counseling. These competencies were identified and refined through a collective, narrative process that took place from January through Novemb...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/BF01408656
更新日期：1996-09-01 00:00:00
abstract：:Adequate knowledge and personal attitudes towards DNA-testing are major determinants of optimal utilization of genetic testing. This study aims to (1) assess the genetic knowledge and attitude towards genetic testing of patients with asthma, diabetes mellitus type II and cardiovascular diseases, (2) determine whether ...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-006-9085-9
更新日期：2007-08-01 00:00:00
abstract：:Trisomy 18 is an autosomal trisomy condition characterized by minor to major birth defects, severe disabilities, and high rates of pre- and postnatal mortality. Interventions for these infants have traditionally been withheld with focus instead on palliative support. The issues and attitudes surrounding corrective sur...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1002/jgc4.1089
更新日期：2019-06-01 00:00:00
abstract：:Gay, lesbian, bisexual, and transgender (GLBT) individuals comprise a growing patient population in genetic counseling, yet literature on working with this population is scarce. This study sought to investigate GLBT patient experiences in genetic counseling and genetic counselor attitudes and practices when counseling...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-011-9403-8
更新日期：2012-04-01 00:00:00
abstract：:A demonstration project designed for couples at a minimum 25% risk for having a child with cystic fibrosis is being undertaken using embryo genetic disorder analysis within an organization proficient inin vitro fertilization techniques. Prior to offering the project to patients, issues were identified that needed to b...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/BF01408636
更新日期：1995-06-01 00:00:00
abstract：:Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific formal supervision training has not been assessed previously. A day-long GC supervision conference was designed based on published supervision competencies and was attende...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-015-9917-6
更新日期：2016-08-01 00:00:00
abstract：:The introduction of cell-free DNA prenatal genetic screening has rekindled discussion of ethical and social questions surrounding prenatal testing, perceptions of disability, and abortion. The growing use of prenatal genetic screening presents a unique opportunity to assess decision-making around new methods of prenat...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-016-9976-3
更新日期：2017-02-01 00:00:00
abstract：:Live supervision of genetic counseling students is critical for ensuring quality client care and student clinical skill development. However, no research has investigated students' and supervisors' experience of this primary supervision method. In this study, separate focus groups of students and supervisors discussed...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1023/A:1013868431533
更新日期：2002-02-01 00:00:00
abstract：:Above all else, predictive genetic testing provides information. Gaining insight into the psychosocial effects of this information is a primary goal of genetic counseling. For individuals utilizing predictive genetic testing, the acquisition of genetic information requires choices regarding disclosure within the famil...
journal_title：Journal of genetic counseling
pub_type： 杂志文章
doi：10.1007/s10897-006-9021-z
更新日期：2006-08-01 00:00:00
