Paper Ideas: Final Paper for SOC371

From BrothersBrothers


Beginning Thoughts

  1. Brief Ideas:
    • Intro: Focus on moving risk discussion into primary care
      • Genetic counselors could teach PCPs, but I prefer to treat the practice of providers who routinely talk about genetics as an "uninspected and unchallenged monopoly of ideas on 'their' subject". In other words, I set out to discover what goes on when genetics providers talk about genetics, not what they say happens or what should happen (Becker 7).
      • This is an example of the extended case method: I sought discussions about genetics in a range of providers, where approaches might be quite different, and I observed genetic counselors looking for things that they did that didn't fit into their model of themselves.
    • My own training as a primary care pediatrician
      • Not problematizing some categories that I assume that I use as a native, as an insider. That is, I have not investigated whether these concepts and categories are used by my subjects because I assume that we are co-members of a group. For example, I have not problematized the roles with which participants are labeled - genetic counselor, medical geneticist, etc.
    • Extended case method
    • Genetic counselor literature on certain elements of the paper
    • Assuming student role
    • Focus on verbal elements, data collection takes shape primarily of handwriting in as much detail as possible.
    • Distinction between the roles of medical geneticists and genetic counselors as highlighting how primary care role in dealing with risk is different
      • KO's thoughts about PCPs having their own types of skills
    • Do providers ask patients what they are seeking because they are trying to be "patient-centered"? No. I believe they do this because it is not well-defined what the patients want to get out of the interaction, and therefore the purpose of this interaction is to negotiate the goals of the visit.
    • Why do providers assess understanding, then? In some interactions, such as when doing prenatal counseling based on an abnormal quadruple screen, the clients were brought to the clinic at the insistence of the providers - there is a decision to be made that is defined by the providers. In this case, the understanding of the client is of highest importance because only by assessing understanding can the providers not only be sure that the client makes the right choice, but that they are deciding among the proper set of options.
    • This is why "skill" is presented as the key element of genetic counseling. There are no hard-and-fast rules because the purpose of the visit, informed by the needs of the family, are not well-defined. However, given their professional definition, they remain focused on information and whether it is understood.
    • A possibility is that the genetic counselors have it right - they really do share information and the understanding is important. If that is so, why is so little time spent on genetic concepts - provide some empiric information here.
    • Last section: from is to ought
      • Once disease risk susceptibility is easily accessible, the focus on "actionable" results could recreate the environment where the goals are defined by the providers. In this setting, understanding will be considered to be important, and will need to be assessed (why did MD, therefore, start the conversation by assessing understanding, while VH started the interaction by asking what they wanted?). The patient should stop smoking, or lose weight, or take their medicine regularly.
      • What of the opposite possibility? What if there is no guidance from the provider and, instead, the patient is expected to say what they want to know and are provided it? This is already occurring with direct-to-consumer genetic testing companies like 23inMe. Patients have "choice," but they don't know what they want beyond "everything."
      • In the Era of Personalized Medicine, then, the challenge will be to recreate the form of genetic counseling where both the information that will be sought and the meaning that is attributed to that information will be negotiated. The patient and provider will define the goals together, the provider will produce both the needed information as well as the non-informational care (like warmth, encouragement, humor, understanding), and then the patient and provider will need to negotiate the meaning together.



  1. Background
    • Genetic counseling and medical genetics both emerged fields oriented toward to help people interpret and make decisions based on genetic test results generated through advances in genetic technologies
    • Although these roles were initially poorly differentiated, as demonstrated by Charles Bosk in All God's Mistakes, over the past 30 years they have come to focus on slightly different types and uses of genetic information.
    • Medical genetics developed as a medical specialty, focusing on diagnosing and treating disease with genetic etiologies. At the risk of oversimplifying, then, medical genetics has come to focus on genetic tests as having diagnostic and prognostic value for the person tested.
    • On the other hand, genetic counseling has tended to focus on risk. When one family member is diagnosed with a genetic condition, genetic counselors serve the function of helping family members identify their own risk, especially reproductive risk. Genetic counseling has tended to focus on genetic tests as having predictive value for family members of the person tested.
    • As has been the history when both of these fields, advances in genetic technologies continue to shape their scope and goals. Recent advances in genetic technologies have made it increasingly possible to interpret genetic results to indicate risk in the person tested.
    • One example is BRCA1 and BRCA2, tests which are now available from a number of sources. These tests can be interpreted to indicate risk in the individual to develop breast cancer in the future.
    • This genetic test result is not interpreted to indicate that the person has a diagnosis, but rather that they are at risk to develop one. Complications have therefore arisen with how a person should best respond to this knowledge. There is no standard of care, and the issues of risk are complex and subject to the perspectives of persons who have the genetic variant.
    • Given this complex interaction of various risks, genetic counselors have been the obvious source of information