Evidence map›Paper›PMID 37596038›Full record

ArticleNeurology2023

Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling.

Rachel A Paul, Aaron Baldwin, Kelsey Johnson, Sara Manning Peskin, Thomas F Tropea, Meron Azage, Tanya Bardakjian, Laynie Dratch

Open access · greenAbstract read
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 19% 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

4 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. Article
  3. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
  4. Review
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 at 1 institution in 1 country.

Rachel A PaulFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA. rachel.paul3@pennmedicine.upenn.edu.
Aaron BaldwinFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
Kelsey JohnsonFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
Sara Manning PeskinFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
Thomas F TropeaFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.ORCID https://orcid.org/0000-0003-0766-1496
Meron AzageFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
Tanya BardakjianFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
Laynie DratchFrom the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA.
MACOM (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Preimplantation genetic testing for monogenic conditions (PGT-M), formerly called preimplantation genetic diagnosis, is a specialized assisted reproduction technique that aims to reduce the risk of a pregnancy inheriting a monogenic condition. Despite calls to increase awareness and prepare neurologists for discussing PGT-M with patients and their families, no guidelines currently exist. When introducing PGT-M to those who may be interested in using it, there are major factors for discussion, including (1) genetic considerations (e.g., requirement for a confirmed genetic diagnosis; timing of genetic test results); (2) practical considerations (e.g., access to PGT-M and genetic services); (3) technical considerations (e.g., factors that can affect the success rate of PGT-M); and (4) psychosocial and ethical considerations (e.g., predictive testing for asymptomatic family members; family dynamics and values). Here, our team of neurologists and specialized genetic counselors discusses the current state of genetic characterization in adult-onset neurodegenerative conditions and highlights the major factors that should be considered when discussing PGT-M with families.

Indexed as

Neurodegenerative DiseasesPreimplantation DiagnosisAdultCounselingFemaleGenetic TestingHumansPregnancy

Identifiers

PMID37596038
PMCPMC10663009
OpenAlexW4385970861

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.