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1.
L. Brent Hafen Rebecca S. Hulinsky Sara Ellis Simonsen Stephanie Wilder Nancy C. Rose 《Journal of genetic counseling》2009,18(4):395-400
In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously
identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005-2006.
The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%,
634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently
classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low
risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect
or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated).
About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among
patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester
serum screening is a valuable resource for pregnancy management. 相似文献
2.
Powell KP Christianson CA Cogswell WA Dave G Verma A Eubanks S Henrich VC 《Journal of genetic counseling》2012,21(3):469-478
To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing,
surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt
unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%)
were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt
either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing,
but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted
channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should
be used when creating educational programs. 相似文献
3.
Written spelling was assessed in 16 subjects with dementia of the Alzheimer type (DAT) using an information processing approach. The results were compared to the performance in a group of healthy elderly subjects. The Alzheimer subjects scored significantly lower in word spelling and nonword spelling ability than the controls (F(1, 7) = 187,p< .0001), and both the lexical and the nonlexical spelling strategies were affected. The results did not support the hypothesis that nonlexical ability is preserved in DAT. In the DAT group, spelling correlated significantly (p< 0.01) with the severity of dementia, but spelling performance was not associated with the age of onset of dementia or family history of dementia. 相似文献
4.
Technological advances and information-seeking consumers have pushed forward the movement of direct-to-consumer (DTC) genetic
testing. Just like with other types of testing, there are potential risks, benefits and limitations. A major limitation of
DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only
analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is
necessary to risk assessment. Further, it is not currently well-established whether personal genomic testing results will
lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system. To display
these and other issues, we present an in-depth case study of an individual who ordered DTC genetic testing and subsequently
sought genetic counseling. This case presents a unique learning experience for the field of genomic counseling, as the patient
did not fit the typical assumptions regarding ‘early adopters’ of DTC testing. It also allowed the genetics health care providers
involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ
for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic
counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and
focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge
necessary to independently interpret and understand large amounts of genomic testing information provided to them. 相似文献
5.
Detailed family history is a critical element of cancer risk assessment. The relative importance of pancreatic cancer (PC)
in a close family member, particularly in hereditary breast-ovarian syndrome (HBOS), is not clearly defined. We use a case-control
design to investigate the importance of a family history of PC to cancer risk assessment. Case and control families were identified
from the University of Chicago Cancer Risk database (1994–2005). Pedigrees were analyzed for personal and familial clinical
cancer data. Cases included all new subjects (probands) reporting a close relative (first or second degree) with PC. Controls
included the probands enrolled in the database immediately prior to and subsequent to each case (i.e. two controls for each
case). From 1,231 pedigrees, 103 PC were reported by the proband in 87 unique families. Many probands reported multiple or
early-onset PCs: one third (28/87) of case families met criteria for a familial PC syndrome [≥2 first-degree relatives with
PC (n = 10) or PC diagnosed ≤50 (n = 18)]. Of these families, the majority (75%) concurrently met criteria suggestive of hereditary breast-ovarian syndrome
(HBOS). Because of a family history consistent with HBOS, at least one individual from each of 29 case and 55 control families
underwent genetic testing for BRCA1/2. Among case families, 19 of 29 (66%) had a BRCA1/2 mutation compared with 16 of 55 (29%) controls. A significant association between family history of PC and a BRCA1/2 mutation was seen (OR 3.78, 1.32–10.9). This point estimate was strengthened but less precise in the non-Ashkenazi Jewish
subset of tested families (OR 6.03, 1.68–22.14). In a high-risk population, a family history of PC, though infrequently reported,
is nonetheless clinically meaningful. In risk assessment for HBOS, identifying a family history of PC should strongly raise
the suspicion of an unrecognized BRCA1/2 mutation. 相似文献
6.
National Society of Genetic Counselors' Definition Task Force Resta R Biesecker BB Bennett RL Blum S Hahn SE Strecker MN Williams JL 《Journal of genetic counseling》2006,15(2):77-83
The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors:
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:
•Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
•Education about inheritance, testing, management, prevention, resources and research.
•Counseling to promote informed choices and adaptation to the risk or condition.
The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups. 相似文献
7.
Miriam Lobo Sara López-Tarruella Soledad Luque Santiago Lizarraga Carmen Flores-Sánchez Oscar Bueno Jesús Solera Yolanda Jerez Ricardo González del Val María Isabel Palomero María Cebollero Isabel Echavarría Gabriela Torres Miguel Martín Iván Márquez-Rodas 《Journal of genetic counseling》2018,27(4):854-862
The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU. 相似文献
8.
Loewy EH 《Theoretical medicine and bioethics》2005,26(6):445-468
This paper argues that we have wrongly and not for the patient’s benefit made a form of stark autonomy our highest value which
allows physicians to slip out from under their basic duty which has always been to pursue a particular patient’s good. In
general – I shall argue – it is the patient’s right to select his or her own goals and the physician’s duty to inform the
patient of the feasibility of that goal and of the means needed to attain it. If the goal is not one that is possible, the
patient, with the physician and family, must select a feasible goal and then discuss the costs/benefits of various approaches.
The physician should take a leading role in helping the patient select the goal. I argue that to simply present a laundry
list of means and insist that patients choose for themselves is not only abandoning patients to their autonomy but is, in
fact, a crass form of violating the patient’s autonomy. Freely choosing not to choose is a choice a patient with decisional
capacity is entitled to make and one that needs to be respected. 相似文献
9.
McCuaig JM Greenwood CM Shuman C Chitayat D Murphy KJ Rosen B Armel SR 《Journal of genetic counseling》2011,20(5):442-449
Five to 10% of all cases of breast and ovarian cancer are attributed to a heritable genetic predisposition. Transmission of
BRCA1 and BRCA2 mutations is equally likely through maternal or paternal lineage; however, fewer referrals to cancer genetics clinics appear
to be made for a paternal, than maternal, family history of breast and/or ovarian cancer. To examine this potential bias,
a retrospective review of 315 patient and family charts was conducted by one familial cancer clinic in Toronto, Canada. Referral
letters, risk estimates, and family histories were analyzed to identify significant differences between patients referred
with maternal and paternal family histories. It was determined that patients are approximately five times more likely to be
referred with a maternal family history of breast and/or ovarian cancer as compared to those with a paternal family history
(p = <.0001). Individuals with a paternal family history were found to have a different, and higher, pattern of risk estimates
(p = .00064). No significant difference was seen between the type of referrals sent by general practitioners, oncologists, and
gynecologists. Recommendations to increase the awareness of paternal family history in assessing cancer risk are provided. 相似文献
10.
Using patients as teaching tools raise many ethical issues like informed consent, privacy, confidentiality and beneficence.
The current study highlights issues on respecting patient’s choice and acquiring informed consent with its spirit rather than
as mere formality. The study was conducted in out-patient department of The Kidney Center Postgraduate Training Institute
Karachi Pakistan in May 2008 to July 2008. All patients who had come for the first time to see the author were included in
the study. The said study explored the willingness of patients to allow medical students to be present during history taking
and physical examination by the consultant. There were 18 male and 03 female patients. Age ranging from 22 to 73 years with
mean age of 53.5 ± 13.7 years. There were total of 21 patient–students encounters out of which two encounters were with male
students only and two with female students only. So in 17 Patient–students encounters, students of both genders were present.
All patients permitted history taking in the presence of medical students except one who had a history of extramarital sexual
contact and signs and symptoms suggestive of sexually transmitted disease. Of the male patients 50% (9/18) did not allow intimate
examination before medical students. Out of these nine patients who refused, four consented earlier but when enquired again
about their true willingness, they expressed their preference not to have medical students in the room while undergoing digital
rectal and external genital examinations. Physicians need to develop sensitivity to acquire informed consent in its true essence
rather than just as a formality by exploring actual willingness of the patient. One should refrain from being judgmental on
the basis of gender, looks, religion or norms. 相似文献
11.
Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors
(N = 128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13–19) and adult (ages
20–34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult
populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults.
They also noted differences between adult and adolescent populations with respect to the people who typically accompany the
patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed
from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings
suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence
a prenatal genetic counseling session. 相似文献
12.
Philip Knowles 《Journal of clinical psychology in medical settings》2009,16(1):72-76
Psychologists frequently collaborate in the care of patients managed in primary care. Communication with a patient’s primary
care team is important to ensure coordination and continuity of care. The communication is far from seamless. Although The
Health Information Privacy and Portability Act (HIPPA) is designed to promote sharing of clinical information while protecting
patient confidentiality, unique problems arise when mental health records are included. Mental health records are subject
to different regulations to protect the patient’s confidentiality. Thus, what is communicated and how it will be accomplished
are challenges. Further, psychologists and primary care providers often view documentation differently, resulting in different
styles of documenting that may also impede coordinated care. Increasingly, health care systems are moving toward electronic
medical records, creating greater opportunities for an integrated record. Improved communication through the record can keep
other providers abreast of the mental health care being provided as well as suggestions they can use to reinforce the mental
health care treatment plan. 相似文献
13.
Afsaneh Hayat Roshanai Richard Rosenquist Claudia Lampic Karin Nordin 《Journal of genetic counseling》2009,18(2):185-194
The aim of the present cross-sectional study was to investigate psychological distress, changes in life, adherence to surveillance
programs and satisfaction with cancer genetic counseling based on Swedish participants’ self-reported data. A total of 218
probands (72% response rate) affected by breast, breast/ovarian or colorectal cancer and/or a family history of cancer were
surveyed 3–7 years after receiving cancer genetic counseling. Participants reported a relatively high level of anxiety and
a low level of depression. Probands affected by colorectal cancer reported a higher level of depression than did non-affected
individuals with a family history of colorectal cancer. Overall, the participants reported moderate changes in family relations,
priorities and appreciation of daily life activities. The majority of at-risk probands reportedly adhered to recommended surveillance
programs. The mean level of satisfaction with cancer genetic counseling was high. About half of the participants would have
accepted additional counseling sessions, contact with a psychologist or further help concerning informing family members.
The present results indicate no adverse effects of genetic counseling, but they do suggest that typical counseling procedures
could be improved by provision of additional psychosocial support. 相似文献
14.
The goals of this research were to describe the process of identifying and recruiting individuals registered with a cancer center's cancer registry who were eligible to participate in cancer genetic research. This study specifically focused on younger women with personal and family cancer histories strongly suggestive of hereditary breast cancer syndromes, as determined by genetic counselor review. Of special interest was to determine the proportion of women from minority backgrounds who were (a) identifiable in this manner and (b) interested in genetic testing for hereditary breast cancer through a family cancer clinical research program. An initial query of the 292 cases of women newly affected with breast cancer and contained within the registry indicated that 124 met demographic eligibility criteria. The personal and family cancer histories of each of these women were then reviewed by a genetic counselor and the remaining, eligible patients (n = 31) were subsequently contacted by mail and telephone: approximately three-fifths (18/31) of these patients were White and two-fifths (13/31) were Black or of another racial background. Of the women who were sent one or more study-related mailings, 10% (3/31) were unreachable by telephone due to incorrect contact information, 32% (10/31) were reachable by telephone but unresponsive to messages left, 26% (8/31) had already participated in the family cancer program (i.e., were positive controls), 6% (2/31) were interested in participating in the program, 23% (7/31) were uninterested in participating in the program, and 3% (1/31) were later determined to be ineligible. Comparing the racial backgrounds of women who were either positive controls or interested in participating (i.e., “tester” category) to women who were either unreachable, nonresponsive, uninterested, or ineligible (i.e., “nontester” category), there was a nonsignificant trend for more non-White women to fall into the nontester than tester category, Fisher's Exact Test = .09. This work underscores practical steps in planning and carrying-out cancer genetic testing research among women newly affected with breast cancer and members of special populations. It also underscores the role that genetic counseling professionals play in this process. 相似文献
15.
Armel SR Hitchman K Millar K Zahavich L Demsky R Murphy J Rosen B 《Journal of genetic counseling》2011,20(4):355-364
The use of mailed family history questionnaires (FHQs) has previously been established to be an effective method for obtaining
family history information for the triage of patients for genetic counseling and genetic testing of hereditary breast and
ovarian cancer syndrome; yet only 53% of patients complete their FHQ within 6 months from the date of mailing (Armel et al.
Journal of Genetic Counseling, 18(4):366–378, 2009). Although literature exists evaluating why women may not attend genetic counseling, no data are currently available examining
genetic risk or genetic testing eligibility in the population of patients not returning their FHQ (non-responders). Concern
exists that if non-responders are not followed-up for the purpose of triage for genetic counseling, individuals at high-risk
for a hereditary cancer syndrome may be missed. This article explores the demographics of the non-responder population to
assess genetic risk estimates for mutations in the BRCA1 and BRCA2 genes and genetic testing eligibility as compared to a responder population of patients who completed a mailed FHQ. A total
of 430 pedigrees were obtained, 215 from non-responders and 215 from responders. Results of this study indicate that 69% of
non-responders were either unreachable by telephone (42%), declined an appointment (19%), or were previously seen in another
center for a genetic counseling visit (8%). Additionally, results indicate that non-responders are less likely to be eligible
for genetic testing (40%) as compared to responders (57%) (p = 0.0004). Together these data shed light on a population of patients for which limited information exists and suggest that
we question how and to what extent clinics should pursue non-responders, particularly in light of global reductions in health
care funding. 相似文献
16.
Frederic Sautter Judith A. Lyons Gina Manguno-Mire Dana Perry Xiaotong Han Michelle Sherman Leann Myers Ronald Landis Greer Sullivan 《Journal of psychopathology and behavioral assessment》2006,28(2):123-130
A telephone survey was conducted to identify predictors of treatment engagement in 83 cohabitating female partners of 83 Vietnam
theater veterans with combat-related post-traumatic stress disorder (PTSD). The survey assessed veterans for their trauma
history and PTSD symptoms. Partners were assessed for caregiver burden, patient–partner involvement, PTSD treatment engagement,
self-efficacy relating to PTSD, beliefs about benefits of PTSD treatment, and PTSD treatment barriers. Significant predictors
of partner PTSD treatment engagement were the couple’s income, patient–partner involvement, and partner caregiver burden.
These findings have implications for family interventions that may increase partner PTSD treatment engagement and improve
PTSD treatment outcome. 相似文献
17.
R. L. Bennett MS K. A. Steinhaus S. B. Uhrich C. O'Sullivan 《Journal of genetic counseling》1993,2(4):261-273
To assess the variation in usage of symbols used in recording a genetic family history, full members of the National Society of Genetic Counselors were surveyed by questionnaire. The questionnaire return rate was 55.3% and genetic counselors from a broad range of clinical experience, genetic counseling training programs and geographic regions responded. There was striking variation in symbols used for recording routine medical information in a genetic family history (i.e., pregnancy, spontaneous abortion, termination of pregnancy). There was even less consensus in recording situations representing new reproductive technologies (i.e., artificial insemination by donor semen, donor ovum, surrogate motherhood). The results of this survey document the need for developing standardized nomenclature in recording genetic family histories as a quality assurance measure in the delivery of genetic services. Such standardization will reduce the chance of incorrect interpretation of patient and family medical and genetic information. 相似文献
18.
Family history questionnaires (FHQ) are useful tools for cancer genetic counseling, providing an informational basis for pedigree
construction and individualized cancer risk assessment. Reported return rates of mailed FHQs amongst familial cancer clinics
that utilize them are lower than desired however, and it is unknown whether patients perceive required completion of a FHQ
as a barrier to access of cancer genetics services. This study critically evaluated the use of a mailed FHQ for all routine
new patient referrals to a single hereditary cancer clinic in Quebec, Canada. Reasons for response/non-response to a FHQ and
the effect of administration of a questionnaire on patients’ self-reported level of motivation to pursue genetic counseling,
were examined. Of 112 eligible individuals referred during the study period, 86 completed a semi-structured telephone survey;
of these, 45% had returned the mailed FHQ prior to the telephone survey (Responders) and 55% had not (Non-responders). Overall,
the majority of participants indicated a FHQ is an acceptable and understandable method of collecting family history information.
Most prevalent reasons for not returning the FHQ were (bad) timing (56%), and difficulty accessing family history information
(46%). Non-response was significantly associated with difficulty in asking relatives for the requested information (p = 0.011), and Non-responders cited fewer overall perceived benefits of cancer genetic counseling as compared with Responders
(p < 0.0001). One quarter of Non-responders returned the mailed FHQ following administration of the telephone survey, suggesting
implementation of a follow-up prompt is a cost-effective way to increase response. 相似文献
19.
Laura Cavanagh Cecilia J. Compton Audrey Tluczek Roger L. Brown Philip M. Farrell 《Journal of genetic counseling》2010,19(2):199-210
This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey
of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results.
Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received
genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic
knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information
about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform
(19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational
prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental
education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF
were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from
this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test
and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation. 相似文献
20.
Alswaidi FM Memish ZA O'Brien SJ Al-Hamdan NA Al-Enzy FM Alhayani OA Al-Wadey AM 《Journal of genetic counseling》2012,21(2):243-255
Results from a screening program for sickle cell disease and β-thalassemia suggest about 90% of couples in Saudi Arabia at
risk of having affected children still decide to marry. This study determined the rate of at-risk marriages and identified
several factors that may prevent at risk couples from marrying. The marriage status of 934 at-risk couples was determined
from original screening program records in the Ministry of Health. Of 934 couples, 824 married (88.2%) and 110 (11.8%) did
not. A case–controlled study was conducted on 104 couples who did not marry (cases) and 478 couples who did marry (controls)
in order to assess relationships between various cultural and social factors and marriage decisions. In the case-controled
study, 28.8% of couples (30/104) who did not marry (cases) knew their disease or carrier status before screening compared
to 18% (86/478) of those who married (controls). Reasons couples gave for proceeding with marriage included: wedding plans
could not be canceled, and fear of social stigma. Couples who did not marry reported being influenced by prior knowledge of
their disease or carrier status and whether they or family members were affected. Approximately half of the cases and controls
(n = 270, 46.4%) thought it best to undergo screening before proceeding with the engagement and wedding plans. Most couples
received no advice to participate in genetic counseling services. Marriage decisions for the small number who received genetic
counseling (n = 168, 27.6%) did not differ significantly from those that received no counseling. Recommendations are made for improving
the effectiveness of this screening program. 相似文献