Since the start of the COVID-19 pandemic, the demand for alternative sample collection for genetic testing has been on the rise. Despite the return to prepandemic norms for many of the clinics at our institution, the requests for alternate sample kits have continued to grow.
In our first article about alternative sample coordination in 2021, we were sending out around 98 kits per month (1). As of November 2023, we sent out an average of approximately 228 kits per month, a 233% increase from 2021. The COVID-19 pandemic was the catalyst for what has become a persistent demand for this service.
With more experience coordinating these alternative sample kits (and higher volumes), new challenges have arisen. In a recent review of our current alternative kit coordination process, our team identified some of the major pain points, along with their associated costs, in supporting targeted efforts at process improvement.
Incorporating alternate specimen collection for genetic testing is an important step for our institution to increase access to this essential testing (2). The following sections outline aspects of our current process where we are exploring possible improvement options to maximize access to genetic testing and minimize wasted work and resources.
Home Collections: Are They as Easy as We Think?
Although home collections can certainly provide an easier collection experience by removing the need to commute to a lab and for needle pokes, they also can introduce new challenges. This option requires patients and their families to take on the responsibility of correctly collecting, labeling, and sending a specimen back to our institution within a preauthorization window for testing to be completed.
A recent research project completed at our institution by genetic counseling assistant Alexis Olsen showed that 5% of all the alternate specimen kits we send out to families must be resent at least once (3). The reasons for over 70% of the kits needing to be resent include collected samples being deemed insufficient in quality, patient collection errors, and shipment concerns (see Figure 1). Each of these three identified categories points to aspects of the home kit collection process that may prove more difficult than anticipated (3).
Anecdotally, our laboratory tech teams have seen alternative specimen kits returned to the lab with varying issues, ranging from all samples being labeled with the proband’s name to saliva kits with distinctive colors suggesting potential food or drink contamination. While we have made efforts to provide thorough instructions (with translations available in more than 20 different languages) in each kit, some patients and families still have difficulty understanding or finding the time to collect samples that will be usable.
Ensuring families return kits to us is another area of difficulty we have identified. In a 6-month timeframe, all the kit tracking numbers were reviewed to determine how many of the return-to-lab labels had been activated. Our team found that 15−20% of the kit labels we had provided for a return shipment had not been scanned into our couriers’ system. While we cannot determine the specific reasons why these kits are not returned, it seems feasible that getting a package to a mail carrier drop box can be a challenge, especially if it is a stop outside of a normal routine.
Whom Are Kits Sent To?
Of the approximately 1,900 kits we sent out in 2022, approximately 80% were sent to collect comparator samples for a proband's test. There has been a rise in the utilization of trio-based genetic tests, like exome or genome, due to increased diagnostic yield (4). While probands occasionally have residual DNA from previous tests, comparators almost always require specimen collection. It is noteworthy that while inclusion of comparators is incredibly valuable from a clinical perspective, there are no charges associated with sending comparator kits to families. At least 80% of the kit services being provided are therefore not billable.
Where Are We Sending Kits?
Another layer of cost we have assessed is where families receiving these kits are located. The majority of our alternate specimen kits are being overnight shipped to and from addresses within the greater Seattle area. Our current cost for shipping these kits has been over $100,000 in just one year.
We certainly want to have the option of shipping kits to families who cannot travel easily to our main campus and satellite clinics, but we should also evaluate less costly alternate options than overnight shipping of kits to our local patients and families.
Proposed Process Improvements
The above findings collected from our review of the current alternative specimen collection process have given us many possible directions for implementing targeted process improvements.
One improvement we have explored is developing inclusion criteria to send alternative specimen collection kits. While the criteria can still be relatively broad to ensure access for families that need it, we could also provide more guidance around which cases might not need to use this option. Clear, outlined criteria can help families and providers understand in which circumstances remote specimen collection will make testing easier and in which circumstances it may truly not be the best option for efficient testing. It is noteworthy that venous blood has traditionally been the tissue of choice because the yield of DNA is quite high compared to noninvasive alternatives (5).
We also have explored the possibility of having pick-up and drop-off locations in the phlebotomy area on the main campus for alternative specimen kits. This could create a pathway for local patients and families to use alternative specimen collection kits without the need to ship kits to and from local addresses.
Finally, we are looking into ways in which we could collaborate more with our most used reference laboratories. Many large reference labs already have extensive systems for coordinating alternative specimen collection kits. Rather than using our internal resources, we might be able to use the processes reference labs already have in place and supplement those offerings to best support our patients.
Alternative specimen collection kits have redefined our genetic testing process over the past three years, and they are likely here to stay. We hope sharing our experiences with alternate specimen coordination can provide useful information for other institutions working with alternate specimen kits in the interest of sustainable, accessible, and patient-centered genetic testing.
Susan Schowalter, MS, LCGC, is a laboratory genetic counselor at Seattle Children's Hospital. +Email: [email protected]
References
- Wittowski C.Not just kitting around: Optimizing alternate sample coordination for genetic tests. https://www.aacc.org/cln/articles/2022/janfeb/not-just-kitting-around-optimizing-alternate-sample-coordination-for-genetic-tests (Accessed November 1, 2023).
- Astion ML. Moving toward patient-centered laboratory stewardship. https://www.aacc.org/cln/articles/2021/july/moving-toward-patient-centered-laboratory-stewardship (Accessed November 1, 2023).
- Olsen A. Analyzing underlying reasons for sending additional genetic testing kits. Presented at: PLUGS Annual Summit 2023. Seattle.
- Tan T, Lunke S, Chong B, et al. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. Eur J Hum Genet 2019; doi: 10.1038/s41431-019-0471-9.
- Quinque D, Kittler R, Kayser M, et al. Evaluation of saliva as a source of human DNA for population and association studies. Anal Biochem 2006; doi: 10.1016/j.ab.2006.03.021.