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Results for “Secondary findings”

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At least 19 recordsLinked to original sources
PubMed2025

Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens.

PURPOSE: Exome and genome sequencing enable opportunistic screening for secondary findings (SFs). We report on exome analysis for a broad range of medically relevant SFs in the setting of the Incidental Genomics randomized clinical trial (NCT03597165). METHODS: Participants had exome sequencing and were randomized to receive only primary cancer findings (control) or cancer findings and a choice of SFs (intervention). RESULTS: Across 279 participants, there were 4441 unique variants in SF genes: 5.0% (221) were reportable pathogenic/likely pathogenic variants, and 81.4% (3615) were nonreportable variants of uncertain significance (VUS). Intervention arm participants had on average 2.6 (SD 1.66, range 0-9) pathogenic/likely pathogenic variants and 29.5 VUS (SD 13.2, range 2-74). SFs for monogenic disease risk were reported in 35.3% (49/139) of participants (American College of Medical Genetics and Genomics non-cancer subset in 1.4%) and carrier status in 89.3% (117/131). In the intervention arm, variant filtration was 7.7 times longer per case (95% CI 5.3 to 11.3, P < .0001), variant classification was 13.3 times longer (95% CI 10.6 to 16.5, P < .0001), and report preparation was 3.3 times longer (95% CI 2.6 to 4.1, P < .0001). CONCLUSION: Although the yield of reportable SFs was high, this was accompanied by many nonreportable VUS and increased efforts for exome analysis.

Humans↗
PubMed2025

Implementing secondary findings analysis in a genetic and environmental research study.

PURPOSE: Optimizing return of secondary findings (SFs) in research settings requires an understanding of the complexities and challenges. METHODS: Genome sequence was generated for 4737 participants in a genetic and environmental health study, and 4630 of them consented to SF return. Variants in the American College of Medical Genetics and Genomics v3.0 genes were classified using the American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria with ClinGen-approved modifications. RESULTS: Eighty-six variants were eligible for return to 102 participants. Average time to initial recontact attempt was 5.8 years. Recontact attempts reached 95 of 102 individuals. Results were returned to 57 participants. The remainder passively declined (25), actively declined (11), were lost to follow-up (5), were deceased (3), or had prior knowledge of the result (1). Return of results was positively associated with education status (2 &#xd7; 3 C2, P = .0035). CONCLUSION: The interest in receiving SFs was high at the time of consenting, but a clinically validated result was returned to just over half of the individuals with an SF. Approximately 1 in 3 participants with an SF who had consented to receive them subsequently actively or passively declined receipt of the result. Given the health importance of return of SF, minimizing the time from consent to results return and tailoring outreach to education level may optimize uptake of SF return.

Adult↗
PubMed1980

[Is a hydatid cyst always an unimportant "secondary finding"? (author's transl)].

527 small parovarial cysts, so-called hydatid cysts, were extirpated as "secondary findings" and examined histologically. 43 cysts (8,16%) were found with a definitely increased proliferation of the epithelium. In 12 cases (2,2%) so-called borderline tumors were detected, and a cystadenocarcinoma was identified in one. The results justify the demand to remove every small cystic or solid tumor in the range of the serous membrane of the small pelvis, and to let follow a routine histological examination.

Adnexa Uteri↗
PubMed2025

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

PURPOSE: The 100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and familial hypercholesterolemia. Here, we evaluate stakeholder experiences to inform clinical practice. METHODS: Mixed-methods study conducted at 18 sites across England that comprised a cross-sectional survey and interviews with participants who received a positive AF (PAF) and interviews with participants who had no AFs (NAF). RESULTS: There were 146 surveys followed by 35 interviews with PAF participants and 29 interviews with NAF participants. Surveys found that PAF results were seen as useful and would influence health management (82%). Most (90%) had shared their result with family members. Experiences differed by PAF type; cancer PAF participants were often initially shocked and anxious and found telling family members challenging compared with participants with a familial hypercholesterolemia PAF. Although most experiences of NAF results were positive, some misunderstandings were identified. Participants supported returning AFs when offering genome sequencing. CONCLUSION: Patient experiences of receiving AFs were primarily positive, and there is support for offering AFs routinely. Considerations for offering AFs in clinical practice include adapting approaches tailored to individual conditions and greater support for people with a NAF result.

Humans↗
PubMed1987

[Diffuse gastropathy and gastritis--a main or secondary finding concerning the cause of death?].

On the basis of the autopsy results in three cases, extensive pathomorphological changes were demonstrated in the stomach, such as Ménétrier's disease and diffuse superficial gastritis. For these cases of sudden death, no cause could be found that could be verified by morphological or toxicological means. Analogous to clinical experience on the protein deficiency syndrome and food allergies and based on the knowledge that the intestinal tract also represents an immune organ, as well as the finding of diffuse changes in the gastric mucosa ideas have been developed regarding hypersensitive immunological reactions which might have not only local but also systemic effects comparable with anaphylactic reactions of different origins. Diffuse gastropathy or gastritis should not simply be assessed as a secondary finding. If other explanations are lacking and there are indications of intensive cellular immune reactions, the possibility arises of reconstructing lethal pathophysiological mechanisms.

Adult↗
PubMed1985

[Secondary findings in gastroscopy detected stomach ulcer].

In 478 patients with gastric ulcer 121 times (25.3%) secondary pathological findings were found in the oesophagus, in the stomach and the duodenum. Erosions, scars and polyps were most frequently to be seen. But concomitant pathological findings with high clinical importance, such as carcinoma of the stomach and the oesophagus as well as varicose veins of the oesophagus, could also be established. The demand is of importance to search intensively for further lesions also after diagnosis of the ulcer. From this resulted conclusions, such as operation in carcinoma, continuation of the diagnostics in varicose veins of the oesophagus or control in polyps.

Duodenal Ulcer↗
PubMed2025

Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project.

PURPOSE: To assess costs and cost-effectiveness of returning additional findings from genome sequencing using data from the 100,000 Genomes Project (100kGP). METHODS: A model-based cost-utility analysis combining yield, consent rates, and cost data from the 100kGP with published estimates of downstream costs and quality-adjusted life years expected to accrue over a lifetime, after the identification of a pathogenic variant. RESULTS: The cost of returning additional findings to participants in the 100kGP was &#xa3;7.1m or &#xa3;81 per participant, with a yield of 0.85% for consented participants. The estimated lifetime incremental cost per participant was &#xa3;125 and quality-adjusted life years 0.004, giving an incremental cost-effectiveness ratio of &#xa3;28,830. Implementing a policy of returning additional findings is unlikely to be cost-effective (ie, 13%) at a willingness-to-pay threshold of &#xa3;20,000. A short-term cost of returning findings of &#xa3;43 per participant or lower (compared with the base case of &#xa3;81) would result in an incremental cost-effectiveness ratio of less than &#xa3;20,000. Alternatively, cost-effectiveness may be improved by returning additional findings to younger patient populations. CONCLUSION: Return of additional findings following genome sequencing for this group of conditions may not be a cost-effective use of health care system resources. Our cost-effectiveness outcomes rely on published estimates and should be validated through long-term follow-up data.

Humans↗
PubMed1988

Acute pancreatitis: secondary findings on hepatobiliary scintigraphy.

Review of hepatobiliary scintigrams in patients with serologically documented pancreatitis revealed scintigraphic abnormalities in 19 of 21 studies (90%) in 19 patients. Abnormalities included duodenal loop widening (14/21 or 65%) and duodenogastric reflux (10/21 or 48%). Total biliary obstruction was seen in five studies, thereby precluding evaluation of the gastrointestinal phase in these patients. Excluding these, duodenal loop widening and duodenogastric reflux were seen in 88% and 63% of patients respectively. We evaluated three patients in whom initial scans showed obstruction, but repeat examination showed resolution of obstruction following passage of common duct stone, with duodenal loop widening and duodenogastric reflux suggestive of acute pancreatitis. Duodenal loop widening as demonstrated by hepatobiliary scintigraphy is a sign of pancreatic enlargement in acute pancreatitis, whereas duodenogastric reflux appears to be an indirect manifestation of an adjacent inflammatory process.

Acute Disease↗
PubMed1987

Unilateral stenosis of the vertebral artery--secondary finding with no prognostic relevance?

The outcome of 142 patients suffering from ischemic cerebral circulation disorders was followed up over a period of 33 months on average. The spontaneous course of 25 patients with unilateral, hemodynamically ineffective stenoses of the vertebral artery was compared with that of 107 patients without vertebral artery stenoses. Within the first 12 months, novel clinically manifest cerebrovascular events were observed in 16.0% of patients without vertebral artery stenosis (deaths 5.0%), but in only 4.3% of the patients with vertebral artery stenosis (no deaths). Within 30 months, only 2 of the 13 patients with vertebral artery stenosis had suffered a new cerebrovascular attack. At the end of the observation period, 39.3% of the patients without vertebral artery stenosis and 48.0% of the patients with vertebral artery stenosis were significantly disabled in their social life or had died. An additional unilateral hemodynamically irrelevant vertebral artery stenosis did not influence the rate of reinfarction or the remission of neurological deficits, independently of age, the degree of the circulatory disorder, the vascular territory involved, the presence of an organic psychosyndrome, or of additional stenoses in the carotid arteries. Consequently, a vertebral artery stenosis narrowing the vessel diameter to less than 1/3 is without prognostic relevance.

Carotid Artery Diseases↗
PubMed2007

[Relevant secondary findings in magnetic resonance imaging of the heart using the examples of a bronchial carcinoma and a malignant lymphoma].

BACKGROUND: Here we consider the prevalence of extracardiac findings in the standard sequences and planning surveys of cardiac MRI. PATIENTS AND METHODS: Over a period of 2 years, 363 patients (261 men, 102 women) with different clinical diagnoses were examined by cardiac MRI. The MRI protocol included a planning survey in three planes and standard sequences in long and short axis orientation. RESULTS: A total of 53 extracardiac findings were detected: 1 lymphoma, 1 bronchogenic carcinoma, 1 retroperitoneal hematoma, 1 mediastinal lymphadenopathy, 1 tumor of the adrenal glad, 16 pleural effusions, 14 renal cysts, 12 liver cysts, 2 pulmonary infiltrate, 1 atelectasis, 2 cholecystolithiasis, 1 diaphragmatic elevation, 1 hiatus hernia. CONCLUSION: Evaluation of the standard sequences and the planning surveys is useful for discovering extracardiac findings in a cardiac MRI and should be carried out routinely.

Adolescent↗
PubMed1986

Abnormal sensory findings secondary to monocular cataracts in children and strabismic adults.

Three children between the ages of 4 and 6 years had untreated monocular traumatic cataracts, for several years. Although amblyopia did not develop, there was a disruption of fusion that resulted in horror fusionis after cataract surgery. Two adults with strabismus and amblyopia since childhood developed cataracts as adults. The occlusion caused by these long-standing cataracts appeared to eliminate suppression and resulted in horror fusionis.

Cataract↗
PubMed2006

Clinically unsuspected pulmonary embolism--an important secondary finding in oncology CT.

AIM: To determine the rate of finding incidental pulmonary embolisms (PE) at staging or follow-up chest computed tomography (CT) in oncology patients. MATERIALS AND METHODS: Three hundred and eighty-five consecutive chest CT examinations, performed in patients with cancer, were prospectively assessed during a 9-month period between October 2003 and June 2004. These were spiral acquisitions between 5 and 8mm collimation acquired 25s after intravenous contrast medium administration. PE was diagnosed if a filling defect was seen in the central pulmonary arteries on two or more consecutive slices. RESULTS: Ten of 385 (2.6%) of these patients had incidentally detected PE. This was not attributable to any specific malignancy or chemotherapeutic regimen. These emboli were all central, between the main pulmonary artery and the lobar level. Although the significance of these findings in patients not clinically suspected of having PE could be contentious, all the patients were started on therapeutic anticoagulation as a result of this observation. CONCLUSION: Over one in 40 oncology patients have incidental central PE visible on the CT images performed to assess their malignancy. Formal review of the pulmonary arteries, using a work station, is advised in patients with malignancy.

Adult↗