Introduction
Rationalization
American Sociologist George Rizter defines rationalization as a process enforced by four principles toward maximization in a particular field or organization. The four principles are defined as:
- Predictability: Analyzing quantity and quality impacts with specific services and products so they remain consistent across location and time.
- Efficiency: is getting from one point to another or improving a service using the most optimum method
- Control: asserts a level of conformity and obedience of both producers and consumers regarding a product or service
- Calculability: emphasizes quantity over quality with products/services completed
What are Genetic Counselors?
Genetic counselors are healthcare professionals with expert-level medical genetics knowledge to guide and support patients throughout their genetic journey, typically involving potentially inherited conditions and their consequences. These professionals educate patients and guide them through getting genetic testing, interpreting information, and understanding how to move forward. They work in various medical areas, similar to physicians providing genetic education, risk assessment interpretations, and psychological and social counseling, differentiating them from traditional health professional careers
History
Early Counseling
Eugenics defines the starting point of the future of the genetic field and its development into a career. Eugenics is defined by Francis Galton, a Victorian polymath, as the study of agencies under social control that may affect the racial qualities of future generations in multiple aspects. The movement had originally good intentions with establishing what could be titled a genetics record office to build the precursor to traditional databases to help families trace hereditary traits. Unfortunately, the records were tainted by bias, and politics led to adverse effects such as mass sterilizations of those deemed inferior and “mentally defective” by 48 states in 1926 and the immigration quota restrictions fully enforced (Uhlmann 2009). This early stage of genetic counseling demonstrates the need for control through an established system recognized by healthcare professionals.
Genetic Clinics
The 1940s signaled a push for a controlled system for genetic healthcare in hereditary clinics, establishing the medical and preventative model. These clinics were initially formed in Michigan and Minnesota, creating a controlled center for providing genetic information on the limited available tests and collecting records. The capabilities in genetics increased steadily after the discovery of DNA's structure. Thus, the decision-making model was established with the definitive non-directive counseling done by professionals in clinics started to assist patients in making rational decisions, forming an interactive process. The interactive process establishes a connection between professionals and patients and a level of control in helping patients not previously found.
"Genetic counseling is helping people understand and adapt to the medical, psychological, and familial implications of the genetic contribution to disease. The process integrates the interpretation of familial and medical histories to assess pathogenesis, educate patients, and provide psychological counseling to promote informed choices and risk adaptations.” -NSGC Definition
Modern Psychotherapeutic Model
By definitively establishing a now-classified career, the now-defined genetic counselors implemented the modern model used today for counseling. The psychotherapeutic model was constructed to create a more controlled interactive process that led to a proper consultation process leading to a more efficient, controlled, and predictable counseling process supporting genetic counselors and patients. The consultation process enforces control through a systematic process for counselors to consult and help patients and a predictable system for patients to be informed how they will be handled for care explicitly (Travers 1987, Kelly 2014).
Education
The first genetic counseling program was established in 1969 at Sarah Lawrence College in New York, and the first “genetic associates” graduated in 197. Dr. Melissa Richer, a professor at the college, brought up the idea for the program. She noticed the dwindling numbers of geneticists as healthcare was expanding at an exponential rate. She believed genetic counselors would make the delivery of genetic services more efficient by providing a masters-level path so more genetic professionals could become available to the public. As of 2021, there are 50 accredited training programs between the United States and Canada, with over 20 more developing around the globe. Genetic counseling programs are two-year master’s level programs comprising coursework and clinical experience. Coursework typically involves bioethics, basic principles of genetic counseling, and psychology, and some courses are tailored for specialties in areas such as pediatrics or cancer genetics.
Practice-Based Competencies
The practice-based competencies are a standardized and predictable set of competencies that future counselors should be evaluated and excel in and formulate the competency-based education method that prioritizes skill acquisition. The practice-based competencies established an evaluation system based on four core criteria, controlling the educational narrative that students receive (Guy 2016). Supervisors can measure a student's proficiency in areas necessary to become an adequate counselor and progress in the career. This efficient model allows students to learn and conduct clinical and patient care work while consistently receiving feedback to push out competent genetic counselors within the short program. The method also allows supervisors to calculate students' capabilities and areas of improvement. The core criterion are as follows:
- Communication Skills
- Critical Thinking Skills
- Interpersonal Counseling
- Professional Ethics & Values
Supervision Training
Clinical supervisors are typically certified genetic counselors who mentor students through their clinical work. They critique case preparation, assess overall performance, and provide feedback and mentorship throughout the student's rotations as a self-reflective practice. This gatekeeping function ensures students meet the ACGC practice-based competencies. Standards. The education of genetic counseling students through this method is another form of control, as they enforce the standards for student capabilities to meet. Students can develop psychosocial skills, learn ethical aspects of counseling, and socialize in the profession. Supervision is not a rigid process but a reflective feedback loop where the supervisor and student construct a working relationship to prevent dehumanizing students, which was an initial fear of this process (Masunga 2014, Cohen 2015)).
Genetic Tools
Medical Records
Medical records originated to document patient history, allowing for recalling the past and sharing information among multiple professionals. In the early years of recordkeeping, there were many issues regarding malpractice litigation and its use in research to track illness prevalence and treatment efficacy. The system was also unprotected, and files could be lost and stolen easily without proper security, allowing sensitive information to fall into the wrong hands. Adapting the record-keeping system into a more efficient one was laborious until technology emerged through pedigree analysis and genetic databases.
Pedigree Analysis
The pedigree was first developed in 1993 and has since been modified for assessing family history through familial diagrams and has been standardized continuously until 2008. Two companies, Cyrillic and Progeny, made the process paperless where it could be done more efficiently, as some applications could even capture patient information to create a patient database as well (Gordon 2018). The pedigree technological modifications allowed for easy, protected patient information storage and significantly decreased the time spent in the early patient counseling phases, displaying the impact of efficiency.
Genetic Databases
Genetic counselors are also researchers, and they require databases to efficiently find pertinent information for patients with information on their specific concerns, such as conditions and potential genetic tests. These databases hold vital information that can help support a patient and counselor in where to steer the process for patient concerns to be answered, controlling the storage and accessibility of information. Database utilization has allowed counselors to access portals of massive amounts of information to improve data collection and risk factors to inform patients while keeping current on current literature, increasing efficiency (Betta 2006).
DTC Testing
The use of pedigrees and databases allows genetic counselors to help patients make informed decisions and give suggestions based on assessments for potential genetic tests that may be conducted in a more efficient manner. Genetic testing services are vital to diagnosing and managing diseases, but genetic tests are frequently misordered and delayed, causing additional costs. Genetic Counselors have the knowledge to utilize their gathered information from databases and historical pedigrees to select the types of tests that may be useful to a patient. They then can choose and advise patients based on specified parameters with the test involving cost, laboratory and test accuracy, and time. The parameters are based on the principles of calculability and predictability and stand as guidelines for counselors when helping patients select tests to choose the best test(s) that will work in most, if not all, capacities for their client ( Uhlmann 2009, Miller 2014).
A study was held to understand how genetic counseling plays a role in DTC genetic testing companies. Of 20 companies identified through literature and the web, 14 provided no service or connection to genetic counseling, five provided counseling, and one offered independent counseling. These companies lack the clinical training and genetic expertise that most customers would require when accurately interpreting complex genetic information, which pushes clients to seek genetic counseling.
Accessibility & Expansion
Due to the rapid expansion of this career in a short period, along with the subsequent tools and increased knowledge and interest in genetics, genetic counseling has faced issues expanding and defining its role in the current climate and increasing accessibility to the population. Currently, genetic counselors are primarily located in metropolitan cities and specific regions of the United States, leaving a large portion of the population unable to access genetic counseling care. The map shows the county-specific locations where a certain number of genetic counselors support the area, displaying the necessity for more accessible counselors in both the number of genetic counselors and their locational settings. The NSGC and genetic counselors have recognized this issue and have worked on implementing new roles and careers in genetic counseling, along with new modes of reaching patients via telehealth (Occupational Handbook 2022).
New Roles
- Clinical Genetic Counselors: These genetic counselors work both in the lab and with patients, reducing the time spent waiting for companies to give test results. There is however, skepticism regarding the level of trust between patients and non-hospital employed counselors. he conflicts of interest due to a counselor employed by a private testing company have led to other professionals noting a lack of authenticity and trust in genetic counselors (Pollack 2012).
In 2016, the NSGC professional status survey found that 20% saw a decrease in staffing and 44% saw no change, while 62% also reported an increase in patient volume, indicating a need to expand the abilities of CGCs.
- Genetic Counseling Assistants: This new career allows students to learn under genetic counselors in a new form of supervisional training while also increasing the efficiency of the counselors themselves. Assistants complete administrative duties allowing for counselors to deal with patient overloads. A study was conducted to understand the effects of the genetic counseling assistant position in 2 genetic clinics. The results found that with a ratio of about three genetic counselors per genetic counseling assistant, GC can see about 58.5% more patients and reported increased efficiency (Pirzadeh-Miller2017).
Telehealth
The mode in which counseling is conducted is changing, enforcing efficiency on both patient and counselor aspects. Telehealth is virtual counseling on online platforms such as Zoom for counselors to meet with patients without being in person. Telehealth has rapidly increased, primarily due to the recent pandemic, and continues to show a significant difference in usage compared to pre-pandemic years. Although this technology has allowed more accessible communication between professionals and patients, it has also sparked a barrier in communication due to rationalizing efficiency. Patients become numbers with less meaningful interaction between counselors and patients than what was intended with the implementation of psychosocial models (Breen 2021, 2022).
The Future of Genetic Counseling
Personalized Medicine
Genomic counseling involves the analysis of our entire genome concerning diseases and genetic conditions at a more precise level than Mendelian genetics. Due to the rise of genomic and personalized medicine, genetic counselors were subsequently called into question whether they could adapt to the changing climate, with a resounding yes from genetic counseling organizations and the professionals themselves, as long as some changes are made. As genomic medicine becomes more mainstream, genetic counselors can assist patients through their entire path, keep up with current literature, and enforce training (Profato 2014). Masters’ programs implement genomic coursework, and new technologies such as predictive testing are being incorporated into the practice. Adding predictive and pre-symptomatic testing has pushed counselors towards a more clinical laboratory role with a mix of patient care and research capacities.
AI & Chatbot Technology
AI Technology and chatbots are still developing. Still, their basic versions arose significantly from the pandemic, as the technologies became more widely used, spreading to the genetic counseling field. The AI and Chatbots can communicate information and answer basic questions or contact a genetic counselor without being in a physical or online appointment, available anytime.
A telehealth company, DNAvisit, has a service that uses transcripts that hold conversations about genetic testing. The company is asynchronous, where counselors have up to two days to respond properly to patients, which goes against the current model using physician referrals in hospital companies. In analyzing the conversations, many patients asked specific questions regarding variants of their test results, where counselors could disseminate information accurately and respond on the necessity of clinical grade testing versus DTC. The study’s results proved the service's flexibility, wide accessibility, and improved efficiency and control for patients and counselors. This solved the issue of patients requiring in-person consultations before truly needing assistance and having a few questions without desiring a full consultation (Cohen 2023).
Conclusion
In conclusion, genetic counseling has been significantly influenced by the principles of rationalization and effectively combating consequential irrationalities during its short career development. As a result of these principles, a new healthcare career that has become more steadily important with recent scientific developments has become an established part of the healthcare professional team. Genetics was once an unknown and complex area distantly connected to healthcare, but the establishment of genetic counseling has become an accessible genetic education and prevention avenue. Surprisingly, the career has dealt with subsequent irrationalities that have sprung due to rapid rationalization in a relatively shorter period of time. Unfortunately, with the current number of active counselors, they are not fully accessible to the population. Extensive developments in telehealth, DTC services, and technology are working to make genetic services accessible to the entire population. As genetic counseling becomes a more fixed and known position in the healthcare team, the overall positive influence of rationalization is clear; its further development and advancement will require the influence of the principles to progress in healthcare and solve subsequent irrationalities.
Bibliography
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Image Credits
- Figure 2: Fair, A. (2019, June 7). Black Perspectives. Situating Standpoint Magazine: Conservative Journalism and Eugenic Ideology. https://www.aaihs.org/situating-standpoint-magazine-conservative-journalism-and-eugenic-ideology/
- Figure 5: Sarah Lawrence College. (ca.). Experience Sarah Lawrence College. https://www.sarahlawrence.edu/admission/visit/
- Figure 9: “2022 Professional Status Survey & Executive Summary.” National Society of Genetic Counseling, 2022. April 30. chrome-extension://efaidnbmnnnibpcajpcglclefindmkaj/https://www.nsgc.org/Portals/0/Executive%20Summary%20Final%2005-03-22.pdf.
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Created with images by BillionPhotos.com - "Helix." • Dan Race - "Doctor works as a geneticist and gives a patient a genetic consultation in her treatment room" • Markoff - "Doctor or nurse in protective gloves holds test tube and cotton swab in his hands for a test to check for bacteria and viruses. Coronavirus test. Close-up." • ChayTee - "Young asia people or female doctor live talk looking and speaking at laptop computer work in online clinic to help patient on digital telehealth telemedicine smart covid consult VoIP service app." • peshkova - "Technology and engineering concept"