Clinical genetics

2020 ◽  
pp. 861-892
Keyword(s):  
Clinical Information ◽  
Expert Advice ◽  
Clinical Genetics ◽  
Request Form ◽  
Genetic History ◽  
General Paediatrician ◽  
Genetic Problem

Clinical genetics is an ever-growing encyclopedia of knowledge and new discoveries. This chapter summarizes clinical genetics for the general paediatrician. Included are how to take a genetic history, features pointing towards an underlying genetic problem, when and how to investigate for genetic conditions, the main tests that are used, and an overview of some of the more commonly encountered conditions. A key point to consider is that genetic investigations are fraught with interpretation challenges. If investigations are sent inappropriately or not enough clinical information is given with the request form, then ambiguous results are not uncommon, creating further worry for both patient and clinician. If in doubt, seek expert advice from your local clinical genetics service.

scholarly journals RADIOLOGY REQUEST FORM;

2013 ◽  
Vol 20 (02) ◽  
pp. 308-312
Author(s):  
ABDUS SALAM, ◽  
SAIF-UD-DIN SAIF,
Keyword(s):  
Clinical Information ◽  
Radiology Department ◽  
Care Centre ◽  
Request Form ◽  
Clinical Notes ◽  
Indoor And Outdoor

Background: An incompletely filled Radiology Request Form (RRF) is a common problem faced by both radiologists andradiographers. Objective: The study was carried out to objectively evaluate the adequacy of completion of radiology request forms in atertiary care centre. Indoor and outdoor patient departments of POF Hospital Wah Cantonment. Design: Descriptive, retrospective study.Setting: Radiology Department POF Hospital, Wah Cantonment. Period: 01 Jul 2009 to 01 September 2009. Methods: A total of 1500request forms received by the radiology department from 01Jul 2009 to 01Sep 2009 were reviewed. These included requests for a varietyof examinations from different departments within POF Hospital, Wah Cantonment. A database of the collected forms was created, notingwhich of the various fields were adequately completed. Results: Only 270 out of the 1500 forms were completed in full and 1230 were notcompletely filled. The only parameter fulfilled in all the forms was the presence of referring doctor’s signature. The commonest blankfields were as follows: patient location: 62%, clinical notes: 67.26%, doctor's name: 47.33% and date of referral: 14.2%. Conclusions:The inadequate transmission of clinical information observed in this study is typical example of the various problems that radiologistshave to face.

scholarly journals Critical Diagnoses in Ophthalmic Pathology: Suspected Important Unanticipated Diagnoses in Surgically Removed Eyes

2019 ◽  
Vol 6 (1) ◽  
pp. 44-49
Author(s):  
Curtis E. Margo
Keyword(s):  
Clinical Practice ◽  
Medical Care ◽  
Medical Records ◽  
Clinical Information ◽  
Critical Values ◽  
Care Providers ◽  
Request Form ◽  
Pathology Laboratory ◽  
Ophthalmic Pathology ◽  
Clinical Diagnoses

Aim: To describe the 5-year profile of anatomic critical diagnoses from an ophthalmic pathology laboratory and raise awareness of the challenges of establishing guidelines for these diagnoses. Methods: Medical records of patients who had consecutively submitted surgically removed globes or eviscerated eyes from 1 October 2009 to 31 October 2014 were examined for a critical diagnosis, as defined by a verbal communication for a serious, unanticipated diagnosis.Important discordant anatomic and clinical diagnoses were reviewed to determine whether the anatomic finding was truly unanticipated. Results: During the study period, 313 eyes were submitted to the laboratory as primary specimens. Twenty (6.4%) had critical (alert) diagnoses. Six of the 20 anatomic diagnoses (30%) were known or suspected prior to surgery but were not communicated on the pathology request form. Five diagnoses (25%) were not clinically suspect before surgery. In 9 cases (45%) medical-care providers were alerted to the critical findings but insufficient clinical information was provided about preoperative conditions. Conclusions: The proportion of critical diagnoses among surgically removed eyes is small, but not inconsequential. Some “critical alerts” would be unnecessary if relevant clinical information was provided when the tissue is submitted to the laboratory. Laboratory guidelines for critical values in surgical pathology should be flexible since they need to anticipate the vicissitudes of clinical practice. Surgeons need to appreciate that relevant clinical information must be provided to pathologists because it can play a role in formulating anatomic diagnoses.

The impact of a dedicated placenta request form on the provision of clinical information at a tertiary centre

Pathology ◽  
2011 ◽  
Vol 43 ◽  
pp. S68
Author(s):  
Mark Bettington ◽  
Fiona Lehane ◽  
Rohan Lourie ◽  
Jane Armes
Keyword(s):  
Clinical Information ◽  
Request Form ◽  
Tertiary Centre ◽  
The Impact

scholarly journals Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente

2019 ◽  
Vol 9 (4) ◽  
pp. 47 ◽  
Author(s):  
M. Cabell Jonas ◽  
Pim Suwannarat ◽  
Andrea Burnett-Hartman ◽  
Nikki Carroll ◽  
Michelle Turner ◽  
...  
Keyword(s):  
Health Risk ◽  
Care Delivery ◽  
Clinical Information ◽  
Clinical Genetics ◽  
Kaiser Permanente ◽  
Direct To Consumer ◽  
Apply Genetic ◽  
Genetic Test Results ◽  
Adjusted Logistic Regression ◽  
Test Result

Health systems and physicians nationwide aspire to consistently and reliably apply genetic and genomic information to guide disease prevention, management, and treatment. However, clinical information, including genetics/genomics data from within and outside of the care delivery system, is expanding rapidly. Between November 2017 and April 2018, we surveyed 1502 Permanente Medical Group primary care and specialist physicians to assess the degree to which direct-to-consumer genetic test results were being presented to physicians and identify genetics educational needs among physicians (response rate 15%). Adjusted logistic regression (according to respondent characteristics) was used to calculate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) comparing responses within groups. Results showed 35% and 12% of respondents reported receiving at least one direct-to-consumer health risk genetic result (DTC-health risk) or direct-to-consumer pharmacogenomic test result (DTC-PGx), respectively, from a patient in the past year. Of those receiving at least one test result, 40% (DTC-health risk) and 39% (DTC-PGx) of physicians reported 1+ referral(s); 78% (DTC-health risk) and 42% (DTC-PGx) of referrals were to clinical genetics. In total, 85% of physicians would spend ≥2 h/year on genetics/genomics education.

scholarly journals Critical Analysis of Cervical and Endometrial Biopsy Specimens

2013 ◽  
Vol 12 (1) ◽  
pp. 23-28
Author(s):  
Rajesh Panth ◽  
Dibya Shree Malla
Keyword(s):  
Clinical Information ◽  
Endometrial Biopsy ◽  
Low Grade ◽  
Histological Findings ◽  
Request Form ◽  
Biopsy Specimens ◽  
Neoplastic Lesions ◽  
Proliferative Endometrium ◽  
One Year ◽  
Intraepithelial Lesions

Introduction: This is a retrospective study done in cervical and endometrial biopsy specimens received in the pathology department of Shree Birendra Hospital over a period of one year from 14th April, 2011 to 13th April, 2012. The aims of this study were to analyze the histological findings of cervical and endometrial biopsies and to identify activities needed to critically evaluate these specimens. Methods: The histopathological diagnoses of 104 cervical and 84 endometrial biopsy specimens reported by the pathologists were retrieved. The diagnoses were categorized and correlated with age in order to work out a strategy for better patient management. Results: The majority of 104 cervical biopsies (76.0%) comprised of neoplastic lesions and 83.5% of them were low-grade squamous intraepithelial lesions. Among the nonneoplastic lesions, cervical polyps and cervicitis were in the ratio of 3:2. Of the 84 endometrial biopsies analyzed, proliferative endometrium comprised the majority (61.9%) with disordered proliferative being the most common pattern. Detailed information about the patients was minimal including the absence of age in 8.0% of cases. More than 80% of both cervical and endometrial biopsies were performed in the age group 30-59 years of age. Conclusions: Neoplastic lesions comprised the majority of the cervical biopsies while all the endometrial biopsies were nonneoplastic. Important clinical information like age of the patient has to be mentioned in the biopsy request form for useful clinical correlation of histological findings.  Medical Journal of Shree Birendra Hospital; January-June 2013/vol.12/Issue1/23-28DOI: http://dx.doi.org/10.3126/mjsbh.v12i1.9088      

scholarly journals Factors that may contribute to an inadequate radiology request form

2019 ◽  
Vol 5 (1) ◽  
pp. 16
Author(s):  
Mitch Otterberg ◽  
Johan Gunneröd
Keyword(s):  
Clinical Information ◽  
Clinical History ◽  
Radiology Department ◽  
Imaging Procedures ◽  
Contributing Factors ◽  
Request Form ◽  
Referring Physicians ◽  
Insufficient Knowledge

The radiology request/referral is an important part of the communication between the referring physician and the radiology department. It forms the basis for radiologists and radiographers to be able to carry out their work. Through the radiologic request form, the referrer orders an examination for a patient, as part of the patient's medical examination or follow-up. In conjunction with education and practice, we have noticed that reduced quality of the referrals is not uncommon. The aim was to identify the main contributing factors to unjustified referrals for diagnostic imaging procedures. A literature review was undertaken. Analyzing the literature, the overall themes emerged, and resulted in five subcategories; 1) insufficient, inaccurate or lack of clinical information or questioning, 2) weaknesses in choosing the desired modality, 3) missing routines and 4) need for further standardization of the referring-practice, and 5) insufficient knowledge of radiological diagnostics on behalf of the referring physicians. Weaknesses in clinical history and questioning were the most frequently presented contributing factors.

scholarly journals Inadequate clinical data on Pap test request form: Where are we headed in the era of precision medicine?

CytoJournal ◽  
2020 ◽  
Vol 17 ◽  
pp. 1
Author(s):  
Neeta Kumar ◽  
Ruchika Gupta ◽  
Sanjay Gupta
Keyword(s):  
Clinical Data ◽  
Clinical Laboratory ◽  
Pap Test ◽  
Clinical Information ◽  
Communication Tool ◽  
Multiple Perspectives ◽  
Request Form ◽  
Subsequent Test ◽  
The Individual ◽  
Test Request

The request form accompanying any sample to a clinical laboratory constitutes an important communication tool between the clinician and the laboratory personnel. Much has been written about the inadequacy of pertinent clinical data on the request slips for hematology and biochemistry tests and its impact on the subsequent test interpretation and error liability. Although the cytology laboratories, including those performing cervical cytology, have to deal with a similar problem of lack of clinical information critical to the proper interpretation of cytomorphologic features, the issue has not been attended to or reported adequately in the literature. This article attempts to explore this topic of inadequate clinical data on Pap test request form from multiple perspectives and suggest possible ways to circumvent this age-old problem. These recommendations may be tailor-made and adopted as per the individual laboratory’s logistics.

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