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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Sep 24

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

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Sep 23

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Aug 4

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 31

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)

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 30

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 29

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 29

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 --

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 19

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.

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 16

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 13

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

1

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 13

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 13

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jul 5

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jun 30

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

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jun 24

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

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Reposted by Benjamin Helm, PhD, MS, CGC

Jehannine (J9) Austin @j9austin.bsky.social · Jun 13

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Jun 2

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · May 15

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

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · May 15

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · May 15

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · May 10

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · May 8

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

1

Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Apr 10

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

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Mar 29

👍👍appreciate it!

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Benjamin Helm, PhD, MS, CGC @bmhgcepi.bsky.social · Mar 28

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

www.mdpi.com