By Daniele Carrieri, Angus Clarke, Anneke Lucassen, Susan Kelly
Advances in genetic and genomic medicine are resulting in better diagnosis and treatment of some health conditions, and the question of whether former patients should be recontacted is therefore timely. Recontacting patients to inform them of new information or new testing, that could be relevant to their health or that of their biological relatives is made more pressing by the increasing use of whole genome approaches in healthcare, where variants previously of unknown significance (VUSs) may now have known disease effects. However, there is currently no consensus about whether or not healthcare professionals have a duty or responsibility to recontact former patients in light of this new information. There is also very little empirical evidence in this area. In a recent article published in Genetics in Medicine, we present the results of a survey of recontacting practices of clinical genetics services across the United Kingdom (UK). As far as we know, this is the first study that specifically explores current recontacting practices in clinical genetic services.
One of the questions of the survey asked was whether clinical genetics services should implement routine recontacting systems. The majority of genetic services were undecided for several reasons. The main arguments given in favor of implementing such systems revolved around patient choice and the idea of keeping patients up to date. The main arguments against pointed to the logistical difficulties of implementing recontacting systems and the possible legal implications of doing so, if that were seen as establishing a new standard of care without the additional resources required for this to be a sustainable activity.
Whilst recontacting may be desirable – and existing evidence indicates that to a certain extent this is also what patients may expect (see Otten et al 2014) – there may negative consequences to establishing a duty or responsibility to do so. First and foremost of these is a resource issue; without extra funding and with pressure on waiting times of new referrals, most services would not be able to implement routine recontacting and thus open themselves up to potential litigation. Other questions that need to be addressed are: (1) what time limits (if any) should there be for recontacting? For how many years from the initial testing date would recontacting apply? (2) How often, and over what span of time, would genetic services be expected to conduct repeat laboratory analyses or interpretations on any samples or results that included VUSs? (3) What do patients expect and how much would they be willing to share responsibility for updating with healthcare professionals, and in what way? (4) Which methodologies might be useful in recontacting systems? For example, smart-phone apps that collate health information for individuals?
Of course, the problem of recontacting is not unique to the specialty of clinical genetics. There have been recent cases of patient recall for example in relation to PIP (Poly Implant Prothese) implants, and to the fear that a dentist may have infected patients with HIV and blood-borne virus. Both these examples involved widespread public information, setting up helplines, and putting the onus on patients to recontact healthcare professionals, rather than vice versa. Are these useful parallels for recontacting in clinical genetic practice?
These are only some aspects of the problem, and we recognize that more evidence is needed to inform any decisions about whether and how to implement recontacting systems. The survey we conducted represents one arm of a broader ongoing study. We are currently conducting interviews with healthcare professionals to investigate their experiences and views concerning recontacting. The sample includes genetic service providers, laboratory scientists, and healthcare professionals from other medical specialties – given that genetic testing is increasingly offered also by ‘mainstream’ specialties such as Neurology, Pediatrics, Oncology, Cardiology and others. We are also investigating patients’ expectations regarding responsibilities and mechanisms for recontacting. Finally, we will engage with other stakeholders (including patient groups, and relevant professional organizations) to integrate findings and analysis in either drafting professional guidance regarding recontacting in the UK, or working toward a professional framework, as appropriate.
We hope that this post will stimulate debate about this important emerging issue in genomic medicine.
Information and data trade are pivotal to the conveyance of consideration on all levels of the human services conveyance framework—the patient, the consideration group, the social insurance association, and the enveloping political-monetary environment. To analyze and treat singular patients adequately, singular consideration suppliers and consideration groups must have admittance to no less than three noteworthy sorts of clinical data—the patient’s wellbeing record, the quickly evolving medicinal proof base, and supplier orders managing the procedure of patient consideration. What’s more, they need data on patient inclinations and values and vital regulatory data, for example, the status and accessibility of supporting assets (work force, healing facility beds, and so forth.).
To incorporate these basic data streams, they will likewise require preparing/instruction, choice bolster, data administration, and specialized devices. For individual patients to take an interest as educated, “controlling” accomplices in the outline and organization of their own consideration, they should likewise have admittance to much the same sort of data and instruction, choice backing, and specialized devices—in a “patient-open/usable” structure.