Benjamin Helm, PhD, MS, CGC

Should Familial Hypercholesterolemia Be Included in Newborn Screening? url: jamanetwork.com/journals/jam...

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

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...

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/...

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...

Experiences of people with elevated lipoprotein(a) and the impact on family and child screening - Journal of Clinical Lipidology www.lipidjournal.com/article/S193...

Makes sense. A practical challenge seems to be, that to allow prediction, the spline basis functions need to be known, but this may not be readily available (in SAS)

Currently using SAS, and natural cubic (RCS); wasn't sure if you need to know specifics of the spline functions used in the background for fitting the line

are there examples of what the prediction equation would look like?

I loved this resource, thanks so much! I am currently working on a log-reg model with a var w/ a nonlinear relationship with my outcome... my spline variable has 3 knots (resulting in two beta coefficients in my model equation. I am wanting to use it for future predictions --

This is an excellent resource. Thanks! I had question regarding what the full derived prediction model equation would look like, when incorporating the splined variable with three knots (two coefficients). I will message you directly.

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/...

Sorry, what was the question again? And again. And again. And again...

Sorry, what was the question again?
open.substack.com/pub/statsepi...

steven-senior.medium.com/it-wont-work...

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/26979548/

This post is great. I'd definitely consider citing/referencing it in later discussions/guides for research. Thanks for sharing!

Ongoing work on rGS in the ICU setting:
publications.aap.org/pediatrics/a...

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. ....

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/...

Research Methods in Genetic Counseling: Journal of Genetic Counseling Click on the title to browse this issue

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 🧪

Would there be a recording available, or content? Would love to see if able. I appreciate your perspectives for the feather ruffling stuff!

I'd love to get a "Quantitative GC Group" together sometime to meet/informally discuss topics in this area -- would be so cool @j9austin.bsky.social

And our spoken language/vernacular is often challenged by conversations in this area -- so recommendations for clarity or conversations is always welcome

Thank you 😀 -- there is SO much to try to cover, so we missed some interesting topics like causality, definitions of confounders/confounding, multivariable adjustment, bias, and so much more (DAGs!); def share feedback for future iterations @j9austin.bsky.social

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...

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

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/40266171/

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

👍👍appreciate it!

Which is also related to our work last year: www.mdpi.com/2073-4425/15...

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 ...

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

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/doi/abs/10.1...

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 ...

Navigating VUS in genetic dyslipidemias, led by Hannah Ison, Gabe Kringlen, and Paul Crawford: pubmed.ncbi.nlm.nih.gov/39950242/

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🧵 ❤️