Benjamin Helm, PhD, MS, CGC
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Benjamin Helm, PhD, MS, CGC
@bmhgcepi.bsky.social
290 followers 120 following 53 posts
Genetic Counselor, Epidemiology, Cardiovascular Genetics
Posts Replies Media Videos
Sharing work from our group, especially as we question paradigms of clinical screening for FH and elevated Lp(a): www.sciencedirect.com/science/arti...

It is turning out that standard risk factors like LDL cholesterol and clinical/family history may not be adequate.
Missed and Misdiagnosed: Precision Medicine Approaches to Screening for Familial Hypercholesterolemia and Lipoprotein(a)
www.sciencedirect.com
December 15, 2025 at 3:18 PM
Any thoughts or methods for deriving etiologic fraction (EF%), or PAR%, from a multivariable logistic regression model for a variable of interest? Came across this: pubmed.ncbi.nlm.nih.gov/4050778/

But leveraging the community too...
#EpiSky
Estimating the population attributable risk for multiple risk factors using case-control data - PubMed
A straightforward and unified approach is presented for the calculation of the population attributable risk per cent (etiologic fraction) in the general multivariate setting, with emphasis on using data from case-control studies. The summary attributable risk for multiple factors can be estimated, w …
pubmed.ncbi.nlm.nih.gov
December 13, 2025 at 8:52 PM
Familial Hypercholesterolemia in Newborns url: jamanetwork.com/journals/jam...
Familial Hypercholesterolemia in Newborns
This cross-sectional study investigates if familial hypercholesterolemia can be identified through newborn screening.
jamanetwork.com
November 15, 2025 at 5:49 PM
Should Familial Hypercholesterolemia Be Included in Newborn Screening? url: jamanetwork.com/journals/jam...
jamanetwork.com
November 7, 2025 at 7:58 PM
Today is FH Awareness Day, #KnowFH. Anyone working with or experiencing familial heart diseases and genetically high cholesterol disorders benefit from the work of the @familyheartfdn.bsky.social
September 24, 2025 at 2:38 PM
Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine www.ahajournals.org/doi/10.1161/...
Lipoprotein(a) Atherosclerotic Cardiovascular Disease Risk Score Development and Prediction in Primary Prevention From Real-World Data | Circulation: Genomic and Precision Medicine
BACKGROUND: Lipoprotein(a) [Lp(a)] is a predictor of atherosclerotic cardiovascular disease (ASCVD); however, there are few algorithms incorporating Lp(a), especially from real-world settings. We deve...
www.ahajournals.org
September 23, 2025 at 2:33 PM
Experiences of people with elevated lipoprotein(a) and the impact on family and child screening - Journal of Clinical Lipidology www.lipidjournal.com/article/S193...
Experiences of people with elevated lipoprotein(a) and the impact on family and child screening
Lipoprotein(a) [Lp(a)] is a low-density lipoprotein (LDL) particle additionally bound to apolipoprotein(a) [apo(a)], and it is an independent causal risk factor for cardiovascular disease.1,2 Lp(a) co...
www.lipidjournal.com
August 4, 2025 at 1:34 PM
Factors influencing retention of patient‐facing genetic counselors: Role of generational age and work environment - Frye - 2025 - Journal of Genetic Counseling onlinelibrary.wiley.com/doi/10.1002/...
onlinelibrary.wiley.com
July 16, 2025 at 12:25 AM
Sorry, what was the question again?
open.substack.com/pub/statsepi...
Sorry, what was the question again?
And again. And again. And again...
open.substack.com
July 13, 2025 at 2:09 PM
steven-senior.medium.com/it-wont-work...
It won’t work but at least it’ll be expensive: Why genomics could be an expensive distraction when…
The NHS 10 year plan puts a lot of stock in genomics for preventing people getting sick. For example, it envisages a“new genomics…
steven-senior.medium.com
July 13, 2025 at 2:05 PM
pubmed.ncbi.nlm.nih.gov/26979548/
The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis - PubMed
This is a revised and updated version of a Cochrane review from 2010, adding 11 studies to the seven previously identified.
pubmed.ncbi.nlm.nih.gov
July 13, 2025 at 2:04 PM
Ongoing work on rGS in the ICU setting:
publications.aap.org/pediatrics/a...
Standardized Criteria for Genomic Testing in the NICU
BACKGROUND. Genetic disorders are pervasive in neonatal intensive care unit (NICU) populations, and the superiority of genomic testing to rapidly identify genetic diagnoses is established, yet patient...
publications.aap.org
June 30, 2025 at 8:02 PM
Work from our recent IUGCP graduate: Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects - Lindstrom - 2025 - Journal of Genetic Counseling - onlinelibrary.wiley.com/doi/10.1002/...
Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects
Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. ....
onlinelibrary.wiley.com
June 24, 2025 at 1:14 PM
Reposted by Benjamin Helm, PhD, MS, CGC
j9austin.bsky.social
Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on:
Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪
Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
onlinelibrary.wiley.com
June 13, 2025 at 6:26 PM
We hope to see our research methods paper be a resource to the GC community tackling their research using quantitative methods: onlinelibrary.wiley.com/doi/10.1002/...
@j9austin.bsky.social #GCchat
Research methods in genetic counseling: Statistical approaches and resources
The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our ne...
onlinelibrary.wiley.com
May 10, 2025 at 9:56 AM
pubmed.ncbi.nlm.nih.gov/40266171/
Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal - PubMed
Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal
pubmed.ncbi.nlm.nih.gov
May 8, 2025 at 2:40 PM
I kinda wish "Effect and Cause" by the White Stripes would become the unofficial song for directed acyclic graphs (DAGs) and causal inference, generally
@pwgtennant.bsky.social @epiellie.bsky.social @epidbydesign.bsky.social
April 10, 2025 at 8:23 PM
Here is our work stemming from my dissertation on dysmorphology-guided prediction of genetic disorders in CHD: www.ahajournals.org/doi/10.1161/...
We also use DCA to support genetic testing for CHD populations agnostic to clinical presentation
@jamesrpriestmd.bsky.social @jwbelmon.bsky.social
Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease | Circulation: Genomic and Precision Medicine
BACKGROUND: Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score ...
www.ahajournals.org
March 28, 2025 at 12:11 PM
onlinelibrary.wiley.com/doi/abs/10.1...
Addressing United States government censorship as related to genetic counseling research in the Journal of Genetic Counseling
Click on the article title to read more.
onlinelibrary.wiley.com
March 24, 2025 at 10:57 PM
Navigating VUS in genetic dyslipidemias, led by Hannah Ison, Gabe Kringlen, and Paul Crawford: pubmed.ncbi.nlm.nih.gov/39950242/
Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients - PubMed
This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients ...
pubmed.ncbi.nlm.nih.gov
February 14, 2025 at 7:19 PM
Reposted by Benjamin Helm, PhD, MS, CGC
j9austin.bsky.social
Huge gratitude to all the members of the editorial board, all our authors, reviewers, the podcast team... so many people contribute to our success... thank you all!
@jodieingles27.bsky.social @tashawainstein.bsky.social @bmhgcepi.bsky.social @laurahercher.bsky.social @naomi-cgc.bsky.social 🙏 end🧵 ❤️
December 31, 2024 at 4:02 PM
Reposted by Benjamin Helm, PhD, MS, CGC
maartenvsmeden.bsky.social
Let us start 2025 in a positive mood: here are 10 methods things researchers can worry *less* about in 2025
a countdown clock with the number 10 in the center
ALT: a countdown clock with the number 10 in the center
media.tenor.com
December 23, 2024 at 10:36 AM
Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing: onlinelibrary.wiley.com/doi/10.1002/...
#cardiosky
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Overview of study design and results—Dysmorphic patients had a two-fold increased risk of having genetic disorders identified, consistent across extra cardiac anomalies (ECA) status. However, dysmorp...
onlinelibrary.wiley.com
November 26, 2024 at 12:36 PM
www.ahajournals.org/doi/10.1161/...
November 25, 2024 at 1:18 AM
jamanetwork.com/journals/jam...
November 17, 2024 at 11:24 AM