Evidence mapPaperPMID 39932628Full record

ArticleJournal of assisted reproduction and genetics2025

Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning.

Maria Katz, Noor Siddiqui, Barry Behr, Dhruva Chandramohan, Qinnan Zhang, Funda Suer, Yuntao Xia, Benjamin Podgursky

Abstract read
In one paragraph

Article in Journal of assisted reproduction and genetics, 2025. 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
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.

  1. Review
  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

8 authors.

Maria KatzOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Noor SiddiquiOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Barry BehrDepartment of Obstetrics & Gynecology - Reproductive Endocrinology and Infertility, Stanford University, Sunnyvale, CA, 940872, USA.
Dhruva ChandramohanOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Qinnan ZhangOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Funda SuerOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Yuntao XiaOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA.
Benjamin PodgurskyOrchid, 4022 Stirrup Creek Dr, Ste 312, Durham, NC, 27703, USA. ben@orchidhealth.com.ORCID http://orcid.org/0009-0000-7072-4272

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe study investigates patient perspectives on the use of Preimplantation Genetic Testing for Polygenic disease (PGT-P) to select embryos with lower risks for common polygenic diseases. Participant responses and attitudes were evaluated after receiving simulated embryo PRS generated from their personal genetic profile.

methodsCouples seeking OB/GYN or Reproductive Endocrinology and Infertility (REI) care with an interest in genetic risks for common diseases in their prospective children participated. A tool provided PRS scores for 11 conditions, using parental DNA to simulate genetic risks for hypothetical embryos produced during IVF. Participants received counseling, reviewed results online, and completed a post-test survey. Feedback from 90 participants assessed understanding and attitudes toward PRS use in IVF.

resultsParticipants were overall more supportive of screening embryos for childhood-onset diseases (80%) compared to adult-onset conditions (63%); however, among specific diseases, participants expressed the greatest interest in screening for adult-onset cognitive disorders (Schizophrenia, 86%, Alzheimer's disease, 82%). Participant-free responses noted the importance of personalized counseling and participants not of European ancestry expressed frustration with limited PRS applicability. Negative reactions to testing (nervousness or anxiety 5%, regret 2%) were explored.

conclusionsThe findings examine the receipt of simulated embryo PRS in a patient population in which support for using PRS during embryo prioritization is high. Positive patient interest was consistent with other US studies; as prior studies identify significant clinician discomfort, these results highlight the need for comprehensive genetic counseling and inclusive stakeholder input in shaping guidelines for PRS during IVF.

Indexed as

Family Planning ServicesMultifactorial InheritancePreimplantation DiagnosisAdultFemaleFertilization in VitroGenetic CounselingGenetic Predisposition to DiseaseGenetic Risk ScoreGenetic TestingHumansMalePreconception CarePregnancyGenetic counselingIn vitro fertilizationPolygenic risk scoresSurvey

Identifiers

PMID39932628
PMCPMC11950577

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.