Documentation / Screening / Age-Aware Prioritization

Age-Aware Prioritization

Not all genetic findings are equally relevant at every age. A BRCA1 variant is critical for an adult's cancer screening but irrelevant for a newborn's immediate care. A CFTR variant matters urgently in a neonate but is primarily a carrier finding in an adult. Helix Insight uses patient age to adjust which genes receive the highest relevance scores during screening.

Age Groups

Group	Age Range	Clinical Focus
Neonatal	0-28 days	Metabolic emergencies, early-onset conditions, actionable newborn findings
Infant	29 days - 1 year	Early-onset diseases, developmental conditions
Child	1-12 years	Childhood-onset, inherited metabolic disorders
Adolescent	12-18 years	Pediatric-onset, cardiac screening genes
Adult	18-65 years	Cancer predisposition, cardiac, pharmacogenomics
Elderly	65+ years	Cardiac (high priority), cancer (reduced), immediately actionable only

Neonatal Scoring

For neonates, early-onset disease genes and treatable metabolic conditions receive the highest relevance. ACMG Secondary Findings genes receive moderate relevance because while important for future care, they are not immediately actionable in a newborn.

Gene Category	Score	Example Genes
Early-onset disease	1.0	CFTR, SMN1, GAA, GBA, HEXA, F8, F9, DMD, BTD, GCH1
Treatable metabolic	0.95	PAH, GALT, BCKDHA, IVD, MMUT, PCCA, PCCB
ACMG Secondary Findings	0.5	81 genes (BRCA1/2, MYBPC3, LDLR, etc.)
Other genes	0.1	All other genes

Pediatric Scoring

For infants, children, and adolescents, childhood-onset disease genes receive the highest relevance. Early-onset genes remain elevated because many early-onset conditions also present in later childhood.

Gene Category	Score	Example Genes
Childhood-onset disease	1.0	NF1, PKD1, PKD2, COL4A5, FMR1, TSC1, TSC2
Early-onset disease	0.8	CFTR, SMN1, GAA, DMD, BTD, GCH1
ACMG Secondary Findings	0.6	81 genes
Other genes	0.2	All other genes

Adult Scoring

For adults, cancer predisposition and cardiac genes receive the highest relevance. These are the conditions where early detection and intervention have the greatest impact on outcomes.

Gene Category	Score	Example Genes
Cancer high-risk	1.0	BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, PALB2, ATM, CHEK2, TP53, CDH1
Cardiac	0.9	KCNH2, KCNQ1, SCN5A, MYBPC3, MYH7, LMNA, FBN1, DSP, PKP2
ACMG Secondary Findings	0.7	81 genes
Other genes	0.3	All other genes

Elderly Scoring

For patients over 65, cardiac genes receive the highest relevance because sudden cardiac death risk remains actionable at any age. Cancer predisposition genes receive reduced relevance because many cancer screening interventions have diminishing returns in elderly patients. Only immediately actionable findings are prioritized.

Gene Category	Score	Rationale
Cardiac genes	1.0	Sudden cardiac death risk is actionable at any age
Cancer high-risk	0.4	Reduced screening benefit; shared decision-making recommended
Other genes	0.2	Only immediately actionable findings prioritized

ACMG Secondary Findings (v3.2)

The ACMG recommends reporting pathogenic and likely pathogenic variants in 81 genes regardless of the primary indication for testing. These genes represent conditions where early identification can lead to medical interventions that improve outcomes. Helix Insight includes all 81 ACMG SF v3.2 genes in the age relevance scoring, organized into three categories: Cancer Predisposition (25 genes), Cardiac (34 genes), and Metabolic (8 genes), plus additional genes across categories.

Precision for Neonates

Age group assignment uses day-precision for the neonatal period: patients 0-28 days old are classified as Neonatal, while 29 days to 1 year are classified as Infant. This distinction matters because neonatal screening protocols differ significantly from infant screening -- certain metabolic emergencies require intervention within the first weeks of life.