Evidence map›Paper›PMID 7579783›Full record

ReviewDrugs & aging1995

Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations.

B J Rossiter, C T Caskey

Abstract readReview
PubMed Publisher
In one paragraph

Review in Drugs & aging, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 99% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

2 authors at 1 institution in 1 country.

B J RossiterDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
C T Caskey
Baylor College of Medicine · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As the Human Genome Project gathers speed, new disease genes are rapidly being found. Important as these discoveries are, they are only the beginning of the process of characterising, diagnosing and treating genetic diseases. We now have the potential to predict the onset of many disorders before the appearance of clinical symptoms, even though treatment is not always available. In this review we have used a number of examples to illustrate various aspects of the presymptomatic diagnosis of genetic disease and, where possible, late-onset disorders have been chosen as examples. When treatment is available, the diagnosis of a disease before appearance of symptoms can greatly improve the prognosis. When treatment is not available, reasons to undergo presymptomatic testing may not be so obvious. However, appropriate lifestyle changes or medical surveillance can sometimes delay onset or decrease severity of a disorder. Even if no treatment is available, genetic testing and counselling for the patient and family members can provide useful information for future planning.

Indexed as

PharmacoepidemiologyAgedGenetic Diseases, InbornHumans

Identifiers

PMID7579783
OpenAlexW70210606

What OpenQuestion holds

Textmetadata
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.