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RESEARCH: Supplemental Newborn and Pediatric Screening: Insight into Consumers and Results

Supplemental Newborn and Pediatric Screening: Insight into Consumers and Results (link to poster)

Authors: Stephanie Ashley, MGC, CGC, Nori Williams, MS, CGC, Robin H. King, MS, CGC, Paldeep S. Atwal, MD

Introduction: In addition to traditional state-sponsored newborn screening programs, consumer-initiated (CI) supplemental newborn and pediatric genetic testing (SNPT) has recently become widely available. These supplemental tests include over 190 childhood onset genetic conditions; some also include pharmacogenetics genes. PWNHealth provides medical oversight for these test requests and post-test genetic counseling. Of note, children must be under age 10 and generally healthy for approval.

Purpose: We sought to describe the demographics of those pursuing SNPT, their motivation for testing, the proportion of positive results, and conditions identified.

Methods: A complete list of anonymized orders from March 1, 2018 – March 1, 2020, for supported companies providing CI SNPT via CLIA-approved labs, were pulled from PWNHealth’s internal records system and reviewed, including: self-reported gender, age, ethnicity, state of residence, indication for testing (selected from a drop down menu), family history, and pathogenic variants associated with a genetic syndrome.

Results: A total of 273 SNPT were requested, of which 76 (27.8%) were canceled or a sample was not submitted, and 197 (72.2%) were completed. Of those completed, 146 (74.1%) of patients were under the age of 1, with all under age 10. Caucasian/White was the most common self-reported ethnicity (79, 40.1%), and the majority reported residing in California (128, 65.0%). 187 (94.9%) selected their reason for testing as being “interested in additional screening for my child” and 10 (5.1%) selected “I have a family member(s) with an inherited condition and wonder if my child will inherit it.” 13 (6.6%) reported a family history of a condition on the panel, and 4 (2.0%) reported they are a carrier-couple of a condition on the test. Of those completed, 9 (4.6%) were positive for a genetic condition.

Conclusions: The majority of families reported that they are Caucasian/White and from California. Further research is needed to determine why more families living in states with less robust newborn screening programs are not yet pursuing SNPT. Appropriately, most families pursuing CI SNPT are ordering testing within the first year of their child’s life, as additional screening for their healthy child. Although less often, some are pursuing testing because they are aware of a genetic condition in their family or because the parents are carriers of a genetic condition. SNPT is identifying children with inherited genetic conditions, leading to early diagnosis and treatment interventions.

 

RESEARCH: Uptake of Genetic Counseling for Consumer-Initiated Genetic Testing

Uptake of Genetic Counseling for Consumer-Initiated Genetic Testing: A Chart Review (link to poster)

Authors: Nori Williams, MS, CGC, Molly Fitzparick, BS, Robin H. King, MS, CGC, Paldeep S. Atwal, MD

Introduction: Utilization of at-home genetic testing has increased rapidly in recent years. Two models make up the at-home market: direct-to-consumer (DTC) and consumer-initiated-testing (CIT) models. PWNHealth’s support of CIT includes pre-test review by a genetic counselor, physician approval or rejection, and post-test clinical support. Recently, articles have been citing a shortage of genetic counselors to serve this population. The profession of genetic counseling has grown by over 100% in the past ten years and this pattern is projected to repeat itself, rendering the shortage narrative a myth. Yet, the myth is propagated and genetic counselors are being trained at exponential rates to meet the so-called need.

Purpose: We sought to determine the uptake of genetic counseling services in this population to provide insight on the perceived value of genetic counseling by people ordering CIT.

Methods: An anonymized list of positive results from 3/1/19- 3/1/20 was pulled from an internal records system. The orders were analyzed to determine if a consultation with a genetic counselor was required for high-risk abnormals per PWN-developed clinical protocols. The outreach protocol consists of three emails sent to the patient over the course of 14 days with a link to schedule an appointment, after which a certified letter is sent if no consultation is scheduled. If a patient cancels or does not attend their scheduled appointment, they are sent an additional email followed by a certified letter encouraging them to reschedule.

Results: A total of 61,864 patients had positive genetic testing results across 15 clients. 1,028 patients had high-risk results that required consultations and were contacted to schedule an appointment. Of those, 79% (813) scheduled a consultation with a genetic counselor and 70.5% (725) completed a consultation. Of the 813 patients who scheduled the required consultation, 10.8% (88) did not complete the consultation because they either canceled or did not attend their scheduled appointment. There was a small percentage of patients with low-risk abnormal results (0.18%;114), that scheduled a consultation with a genetic counselor to discuss their results even though their results did not require genetic counseling.

Conclusions:  The majority of patients with high-risk results complete genetic counseling consultations. Without proactive outreach, few people with low-risk abnormal results scheduled a consult. The low uptake of genetic counseling services for cases in which outreach was not conducted reveals an issue of perceived value.

RESEARCH: Motivations For Ordering Consumer-Initiated Genetic Testing: A Chart Review

Motivations For Ordering Consumer-Initiated Genetic Testing: A Chart Review (link to poster)

Authors: Nori Williams, MS, CGC, Robin H. King, MS, CGC, Paldeep S. Atwal, MD

Introduction:Utilization of at-home genetic testing has increased rapidly in recent years. Two models make up the at-home market: direct-to-consumer (DTC) and consumer-initiated-testing (CIT) models. PWNHealth’s support of CIT includes pre-test review by a genetic counselor, physician evaluation for approval or rejection, and post-test clinical support.

Purpose: We sought to describe motivations for ordering CIT.

Methods:  A complete list of anonymized CIT orders from March 1, 2019 – March 1, 2020 for all supported tests, ranging from traditionally ancestry tests with added health conditions, healthy adult panels, carrier screening, pharmacogenomics testing, APOE testing, and supplemental newborn screening options were pulled from an internal records system and reviewed for their primary reason for testing, self-selected  from a drop-down menu.

Results: Of 144,261 total orders of consumer-initiated genetic tests across 17 different tests performed in CLIA-approved laboratories, 59% (n=84,528) of people responded with the most commonly selected motivation: “I’m interested in my health.” People tended to select more abstract options (0, 5, 16, 17) indicating their interest in learning about themselves (93,202;65%), instead of options (1, 2, 3, 4, 6, 7, 9, 10, 11, 18, 19) that cited specific risks or lived experiences like family histories (18,853;13%), and even fewer chose directives from outside sources like a doctor or being the recipient of a gift (10,705;7%). Another 1% (n=1,019) chose “Other” and were provided a free-write option. There were some themes although many were unique. Most indicated they were ordering testing for reproductive screening (44%;452), and 8% were in search of information on family members because they were adopted (4%;44) or did not know their family (4%;37). 14% of our cohort declined to respond with their motivations, either by leaving the question blank (20,482) or citing their motivations as too personal to disclose (74).

Conclusions: Consumers were interested in learning about health in the abstract versus understanding the cause of a personal health history, which is appropriate given these tests are designed as screening tools and not as diagnostic tests. People see these tests as opportunities to gain information about themselves, not necessarily something which may reveal a life-changing genetic diagnosis.

RESEARCH: A Snapshot of Consumer-Initiated Genetic Testing: A Demographic Chart Review

A Snapshot of Consumer-Initiated Genetic Testing: A Demographic Chart Review (link to poster)

Authors: Nori Williams, MS, CGC, Robin H. King, MS, CGC, Paldeep S. Atwal, MD

Introduction: Utilization of at-home genetic testing has increased rapidly in recent years. Two models make up the at-home market: direct-to-consumer (DTC) and consumer-initiated-testing (CIT) models. PWNHealth’s support of CIT includes pre-test review by a genetic counselor, physician evaluation for approval or rejection, and post-test clinical support.

Purpose: We sought to describe the demographics of individuals ordering CIT.

Methods: A complete list of anonymized orders from March 1, 2019 – March 1, 2020, from companies offering CIT through CLIA-approved labs reviewed by an independent company, were pulled from an internal records system and reviewed for their demographic information. This included: self-reported gender, age, ethnicity/ancestry, and geography. Age was further classified into groups defined as: 0-1 infant, 2-12 child, 13-17 teen, 18-29 young adult, 30-64 adult, ≥ 65 senior. Geographical location was listed by state and further categorized by regions recognized by NSGC.

Results: 144,261 orders were placed with at least one coming from each of the 50 states. The most orders (31,475; 21%) came from region 6, the West. The age group that most commonly ordered a test was the adult group (67%), followed by seniors (19%). More women than men order CIT: 91,807 females (64%), 52,449 males (36%),which is statistically significant (one proportion calculator; z-statistic 540.243;Significance level  P < 0.0001; 95% CI of observed proportion 35.75% to 36.25%). Of note, the majority of our sample is not prompted to input their ethnicity/ancestry, as the test they ordered assesses it as well as health characteristics (124,916; 87%). By removing these for the remaining calculations, we describe the reported ancestry/ethnicity of those prompted. White/Caucasian (13,801; 71%) was most commonly self-reported. 4% (760) identified as Hispanic or Latino, 2% (340) identified as Black/African American, and 0.1% (19) identified as Asian. The remaining 23% described combinations of ancestry across ethnicities and regions.

Conclusions: It is interesting that 1 in 5 orders came from senior citizens given that genetic conditions are typically associated with early age of onset even when considering age-penetrant conditions. Additionally, the occurrence of unique ancestry responses may indicate that people who order CIT found a gateway to genetic testing by interest in uncovering their ancestry. In the end, our data shows that consumer-initiated testing has made it to every corner of the United States and appeals to people across age groups and ethnicities.