TABLE 3.

Challenges in precision medicine

		Current Status	Considerations	Future possibilities
Challenges	Costa	$6,000	$3,000 in direct sequencing costs $1,000 for library preparation $2,000 lab personnel, capital cost	Reductions in sequencing reagents Reduced reliance on fee-for-service computational services
	Turnaround timeb	4–6 weeks	1–2 weeks for sequencing 2–4 weeks for bioinformatics	Optimizing computational pipelines with targeted analyses for time reductions
	Lack of clinical trial availability	~20–40% of patients with actionable targets lack access to drugs	Limited pediatric safety/efficacy data available for many experimental therapies	Multi-institutional umbrella trial protocols such as the MATCH
	Rational combination of therapies	Targeted agents typically initiated in the relapse setting mostly as a single agent after standard of care	Relapsed/refractory patients likely have multiple intrinsic resistance mechanisms	Introduction of targeted agents early in disease course Combining targeted agents with other targeted agents, standard-of-care regimens or immunotherapy
	Incidental germline findings	~8–10% of patients harbor likely pathogenic variants	Flexible default model of optional disclosure of germline findings to families	Increased access for “trio” testing of families to define variants Longitudinal studies on the impact of findings on families (e.g., psychological, access to care and adherence to cancer screening)

^aEstimate for supplies and capital depreciation for the PEDS-MIONCOSEQ study by Michigan group (Ref.¹⁵) only and does not include cost of analysis.

^bTurnaround time estimates refer to the PEDS-MIONCOSEQ study by Michigan group (Ref.¹⁵) only.