Table 3 Second-round survey ratings of agreement about value and whether a third party should pay for CGI outcomes by stakeholder group

From: Stakeholders’ views on the value of outcomes from clinical genetic and genomic interventions

Outcomes	Valuable													Third party should pay
Outcomes	Agree valuable					Uncertain					Agree NOT valuable			Agree should pay					Uncertain					Agree should NOT pay
Health-related
Improvement in physical health	C	P	M	R	A									C	P	M	R	A
Improvement in daily functioning	C	P	M	R	A									C	P	M	R	A
Improved transitions in care^a	C	P		R	A			M						C	P		R	A			M
Decreases in urgent or emergency care	C		M	R	A		P							C		M	R	A		P
Improvement in diet and nutrition	C	P	M	R	A										P		R	A	C		M
Management ^b
Treatment with a drug or medical procedure that has proven health benefits	C	P	M	R						A				C	P	M	R						A
Treatment with a drug or medical procedure that has unproven health benefits						C	P		R	A		M							C	P		R	A		M
Early detection using a surveillance strategy that has proven health benefits	C	P	M	R	A									C	P	M	R	A
Early detection using a surveillance strategy that has unproven health benefits						C	P	M	R	A									C	P	M	R	A
Disease prevention through use of a medication that has proven health benefits	C	P	M	R	A									C	P	M	R	A
Disease prevention through use of a medication that has unproven health benefits						C	P		R	A		M							C	P		R	A		M
Disease prevention through surgery to remove or repair at-risk tissue that has proven health benefits	C	P	M	R	A									C	P	M	R	A
Disease prevention through surgery to remove or repair at-risk tissue that has unproven health benefits							P		R	A	C	M								P		R	A	C	M
Establishing eligibility for a clinical trial	C		M	R	A		P									M		A	C	P		R
Reproductive
Informing reproductive decisions^c	C	P	M	R	A									C	P	M	R	A
Invasive prenatal diagnosis^d of a fetus at high risk^e	C	P	M	R	A									C		M	R	A		P
Invasive prenatal diagnosis^d of a fetus at low risk						C	P	M	R	A										P	M	R	A	C
Noninvasive screening^f of a fetus at high risk	C	P	M	R	A									C	P	M	R	A
Noninvasive screening^f of a fetus at low risk		P	M			C			R	A						M			C	P		R	A
Identifying a genetic factor contributing to infertility^g	C	P	M	R	A									C	P	M	R	A
Diagnostic/prognostic
Confirming a genetic diagnosis in a patient who meets established clinical criteria	C	P		R	A			M						C	P		R	A			M
Confirming a genetic diagnosis in a patient who does NOT meet established clinical criteria	C	P	M	R	A									C	P	M	R	A
Confirming a genetic predisposition in an asymptomatic individual with a family history of the disorder	C	P	M	R	A									C	P		R	A			M
Ruling out a genetic predisposition by excluding a familial pathogenic variant	C	P	M	R	A									C	P	M	R	A
Ending the diagnostic odyssey for an individual with an unknown disorder	C	P	M	R	A									C	P	M	R	A
Providing prognostic information for a hereditary disorder^h	C	P	M	R	A									C	P	M	R	A
Providing risk of cancer recurrenceⁱ	C	P	M	R	A									C	P	M	R	A
Patient behavioral
Promoting a patient’s uptake of a clinical intervention with proven health benefits	C	P	M	R	A										P	M	R	A	C
Discouraging a patient’s uptake of a clinical intervention with unproven health benefits			M	R		C	P			A									C	P	M	R	A
Decreasing a patient’s unhealthy behaviors^j	C	P		R	A			M						C	P		R	A			M
Promoting a patient’s uptake of lifestyle choices with proven health benefits	C			R	A		P	M						C	P		R	A			M
Discouraging a patient’s uptake of lifestyle choices with unproven health benefits		P				C		M	R	A									C	P		R	A		M
Improving a patient’s understanding of the effectiveness of treatment, management, or prevention options	C	P		R	A			M							P		R	A	C		M
Patient psychosocial
Helping a patient cope with grief, stress, and emotional challenges of having a genetic disorder	C		M	R	A		P							C	P		R	A			M
Ending a patient’s uncertainty about a genetic diagnosis	C	P	M	R	A									C		M	R	A		P
Informing a patient’s life planning decisions^k	C		M	R	A		P											A	C	P	M	R
Determining a patient’s ancestry without a hereditary disorder in mind							P	M	R		C		A							P				C	M	R	A
Establishing parental consanguinity for a patient without a hereditary disorder in mind							P	M	R	A	C									P		R	A	C	M
Establishing the biological sex of a transgender patient		P	M			C			R				A						C	P	M	R					A
Family-related
Promoting communication in the family about a genetic disorder	C	P	M	R	A													A	C	P	M	R
Helping family members cope with grief, stress, and emotional challenges of having a relative with a genetic disorder	C	P	M	R	A													A	C	P	M	R
Providing genetic information to an at-risk family member to inform their chances of having a hereditary diagnosis or risk	C	P	M	R	A									C	P	M	R	A
Establishing paternity for a patient or their offspring		P	M	R		C							A		P						M			C		R	A
Promoting uptake of lifestyle choices by family members that can result in health benefits		P		R	A	C		M						P				A	C			R			M

A administrator/manager, C clinician, CGI clinical genomic intervention, M policy-maker/payer, P patient/consumer, R researcher.
^aExamples of transitions in care: from pediatric to adult health care, or to long-term care or palliative care.
^bManagement is specific to a disease due to a hereditary disorder.
^cExamples of reproductive decisions: deciding to have children, adoption, egg or sperm donation, use of prenatal diagnosis.
^dInvasive prenatal diagnosis through a procedure like amniocentesis.
^eHigh risk for a hereditary or chromosomal disorder due to advanced maternal age, abnormal fetal ultrasound findings, or a positive maternal screening test.
^fNoninvasive prenatal screening for a chromosomal disorder such as Down syndrome, trisomy 18, trisomy 13 in a maternal blood sample; a positive screen would be an indication for an invasive prenatal procedure, like amniocentesis.
^gExamples of infertility: multiple miscarriage, premature menopause, or low sperm count.
^hExamples of prognostic information include information about related conditions, severity of symptoms, or age of onset.
ⁱFor example, through testing of tumor tissue for prognostic markers.
^jFor example, decrease in use of tobacco products, excessive alcohol intake, inactivity.
^kFor example, decisions about career, marriage, finances.

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Table 3 Second-round survey ratings of agreement about value and whether a third party should pay for CGI outcomes by stakeholder group

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