Evidence map›Paper›PMID 23239603›Full record

ReviewAmerican journal of medical genetics. Part A2013

The practice of adult genetics: a 7-year experience from a single center.

Tanya N Eble, Sandesh C S Nagamani, Luis M Franco, Sharon E Plon, Maria Blazo, Shweta U Dhar

Abstract readReview
In one paragraph

Review in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  5. Article
  6. Molecular diagnostic experience of whole-exome sequencing in adult patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Tanya N EbleDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Sandesh C S Nagamani
Luis M Franco
Sharon E Plon
Maria Blazo
Shweta U Dhar
Baylor College of Medicine · USBaylor Scott & White Medical Center - Temple · US

Funding

Integrative genomic analysis of the human response to glucocorticoidsZIAAI001191 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI FRANCO, LUIS M · 2014 to 2019
$2.3M
Intramural NIH HHS ZIA AI001191
6 · The paper itself

Abstract

The purpose of our study is to familiarize the reader with genetic disorders commonly seen in adults and identify challenges and barriers that limit provision of services. We conducted a retrospective chart analysis of patients seen in the adult Genetics clinics from January 2004 to December 2010 in a metropolitan medical center consisting of an academic private clinic and a county hospital clinic. During the study period, a total of 1,552 patients (n = 1,108 private clinic patients; n = 444 county clinic patients) were evaluated and managed. Of these, 790 and 280 were new patient visits at the private clinic and county clinic, respectively. Approximately 35% (374/1,070) of new patients were seen for cancer-related indications, while neurological indications accounted for approximately 14% (153/1,070) in both clinics. Cardiology-related indications accounted for approximately 13% (145/1,070) of patients, followed closely by chromosomal and syndromic indications for which almost 9% (96/1,070) of new patients were seen. Approximately 8% (90/1,070) of new patients were seen for musculoskeletal indications. We saw increased clinic growth during the study period and found that the most common indications for referral are: (1) Personal/family history of cancer (2) neurological (3) cardiovascular (CV) (4) chromosomal/syndromic and (5) musculoskeletal. A number of challenges were identified, including coordination of services, feasibility of testing, and an overall higher complexity of care with increased clinic scheduling time requirements. Through this review, we demonstrate the demand for adult genetics services and propose some guidelines to address the challenges of management in the adult genetics patient population.

Indexed as

Genetic TestingHealth Services Needs and DemandAdultGenetic CounselingGenomicsHumansReferral and Consultation

Identifiers

PMID23239603
PMCPMC6859647
OpenAlexW2161168196

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.