A research blog from the Centre for Resarch Ethics & Bioethics (CRB)

Tag: precision medicine

Do physicians have sufficient knowledge about genomic medicine?

As patients, we are used to providing samples so that the physician can make a diagnosis and prognosis and choose treatment. But it is becoming more common for physicians to also order genomic tests in order to make the diagnosis, prognosis and treatment even more individualized. Even common diseases such as cardiovascular disease, diabetes and depression can become subject to this approach, where information about the patient’s DNA is obtained together with other samples.

As genomic medicine becomes more common, physicians in a variety of specialties need to know more about genetics and genomics. Do physicians who are not specialists in clinical genetics have sufficient knowledge to be able to order relevant tests, interpret test results and talk to patients? How do they prefer to work with genomic medicine? What support do they need and how do they want to learn more? These and other questions were investigated in a survey study aimed at Swedish specialist physicians in, among others, oncology, gynaecology and obstetrics, and general paediatrics; clinical geneticists were excluded.

The study suggests that Swedish physicians want to learn more about genomic medicine, that they are currently learning more, but that the level of knowledge may be low. The physicians in the study expressed a great need for support in matters related to genomic medicine. Although some physicians preferred to refer patients who could be considered for genomic medicine to regional genetics services, a majority preferred to manage the patients themselves, provided that they received good support. What they mainly wanted help with was choosing suitable tests and interpreting test results. The majority of the physicians reported that better knowledge of genomic medicine would change the way they work as physicians. They seemed to prefer to learn more about genomic medicine not through university courses, but through continuous education of various kinds.

In their discussion, the authors (including Joar Björk and Charlotta Ingvoldstad Malmgren) emphasize that physicians’ uncertainty about choosing suitable tests and interpreting test results is probably hampering the mainstreaming of genomic medicine today. Support and training should therefore focus particularly on these tasks. They also note that the physicians mainly requested support of a more technical nature and were less interested in learning more about ethics and communication with patients and families. They may believe that they can rely on their general competence as physicians in these areas, but genomic medicine presents physicians with particularly difficult ethical and communicative challenges, the authors point out. Genetic counselors may therefore have important functions in genomic medicine.

More specific results and the authors’ discussion can be found here: Self-assessed knowledge of genomic medicine among non-genetics physicians – results from a nationwide Swedish survey.

The authors conclude that Swedish physicians have already taken important steps towards making genomic medicine common, but that mainstreaming requires continuous educational efforts, support from regional genetics services and improved guidelines for how to collaborate.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Björk, J., Friedman, M., Nisselle, A. et al. Self-assessed knowledge of genomic medicine among non-genetics physicians – results from a nationwide Swedish survey. Journal of Community Genetics 16, 669–677 (2025). https://doi.org/10.1007/s12687-025-00818-y

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We have a clinical perspective

What does precision medicine and AI mean for the relationship between doctor and patient?

In a sense, all care strives to be tailored to the individual patient. But the technical possibilities to obtain large amounts of biological data from individuals have increased so significantly that today one is talking about a paradigm shift and a new way of working with disease: precision medicine. Instead of giving all patients with a certain type of cancer the same standard treatment, for example, it is possible to map unique genetic changes in individual patients and determine which of several alternative treatments is likely to work best on the individual patient’s tumor. Other types of individual biological data can also be produced to identify the right treatment for the patient and avoid unnecessary side effects.

Of course, AI will play an increasingly important role in precision medicine. It can help identify relevant patterns in the large amount of biological data and provide support for precision medicine decisions about the treatment of individual patients. But what can all this mean for the relationship between doctor and patient?

The question is examined in a research article in BMC Medical Informatics and Decision Making, with Mirko Ancillotti as main author. The researchers interviewed ten physicians from six European countries. All physicians worked with patients with colorectal cancer. In the interviews, the physicians highlighted, among other things, that although it is possible to compile large amounts of individual biological data, it is still difficult to tailor treatments for colorectal cancer because there are only a few therapies available. The physicians also discussed the difficulties of distinguishing between experimental and conventional treatments when testing new ways to treat colorectal cancer in precision medicine.

Furthermore, the physicians generally viewed AI as a valuable future partner in the care of patients with colorectal cancer. AI can compile large amounts of data from different sources and provide new insights, make actionable recommendations and support less experienced physicians, they said in the interviews. At the same time, issues of trust were evident in the interviews. For example, the physicians wondered how they can best rely on AI results when they do not know how the AI ​​system arrived at them. They also discussed responsibility. Most said that even when AI is used, the physicians and the team are responsible for the care decisions. However, they said that sometimes responsibility can be shared with AI developers and with those who decide on the use of AI in healthcare.

Finally, the physicians described challenges in communicating with patients. How do you explain the difference between experimental and conventional treatment in precision medicine? How do you explain how AI works and how it helps to tailor the patient’s treatment? How do you avoid hype and overconfidence in “new” treatments and how do you explain that precision medicine can also mean that that a patient is not offered a certain treatment?

If you would like to see more results and the authors’ discussion, you can find the article here: Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship.

Some of the study’s conclusions are that good integration of AI and precision medicine requires clearer regulation and ethical guidelines, and that physicians need support to meet the challenge of explaining how AI is used to tailor patient treatment. It is also important that AI remains an auxiliary tool and not an independent decision-maker. Otherwise, patients’ trust can be eroded, as can physicians’ autonomy, the authors argue.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Ancillotti, M., Grauman, Å., Veldwijk, J. et al. Exploring doctors’ perspectives on precision medicine and AI in colorectal cancer: opportunities and challenges for the doctor-patient relationship. BMC Med Inform Decis Mak 25, 283 (2025). https://doi.org/10.1186/s12911-025-03134-0

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We have a clinical perspective

Precision medicine algorithms and personal encounters

The characters in Franz Kafka’s novels go astray in the corridors of bureaucracy. Impersonal officials handle never-defined cases as if they were robots controlled by algorithms as obscure as they are relentless. Judgments are passed without the convicted receiving any comprehensible information about possible charges.

Please excuse this dramatic introduction, which, in a perhaps slightly extreme way, is only intended to highlight a point in an article about precision medicine. Namely, the importance of placing the methods of precision medicine within the framework of the meeting between patient and physician: the importance of “personalizing” precision medicine.

Precision medicine is the name for methods to optimize disease management on the basis of the patient’s individual genetic profile. A bit like in a dating app that is meant to identify the best potential partner for you. Algorithms are used to calculate how patients with different genetic variants are likely to respond to drug treatments for some disease. There are advantages to this. The most effective and safe treatment for the patient in question can be identified. It also means that you can avoid treatments from which a patient with a certain genetic profile has very serious side effects. Or from which the patient is unlikely to get any positive effect, but would only suffer the side effects.

Together with several co-authors, Åsa Grauman at CRB recently published an interview study on precision medicine. Patients with a form of blood cancer (AML) in Finland, Italy and Germany were interviewed about how they viewed precision medicine, and about their preferences for being involved in this new way of making treatment decisions. Something I found interesting was that several (not all) participants wanted and valued information, but not for the purpose of making decisions. They wanted information to prepare themselves mentally, to know what to expect and to understand why different measures were being taken. They wanted information to be able to make the transition to being patients, I would like to say.

Almost all participants were unfamiliar with precision medicine. When the interviewer described the concept to them, most of them felt that precision medicine made sense and they were hopeful that the methods could be useful in the future. For example, to avoid unnecessary treatments with severe side effects in patients with a certain genetic profile. But even if the participants had faith in the algorithms that may be used in precision medicine, they emphasized that the algorithms are only a tool for the physician. They said that the physician can see the human side of the patient and the disease, and that the physician should be able to go against the algorithm depending on factors in the patient other than those included in the algorithm. The algorithm must not replace the physician or run over the patient. Many participants thus seemed to hold the view that difficult treatment decisions can be left to the physician, if the physician has listened to both the algorithm and the patient. Participants also highlighted the problem of not fitting into the algorithm: being denied treatment because the algorithm does not consider one to be the right patient for the available treatment options.

In their discussion, the authors highlighted a particularly interesting aspect of the situation of making treatment decisions. Namely, that the patient can weigh benefits and risks differently than both the physician and the algorithm. Incorporating the patient’s own trade-offs is therefore fundamental, they write, for precision medicine to be considered personalized care. Read the thought-provoking interview study here: Personalizing precision medicine: Patients with AML perceptions about treatment decisions.

To summarize, one could say that patients need to meet not only their algorithmically optimized treatment. In order to understand and influence their situation as patients, they above all need to meet their physician. Even if the patients feel that the decisions are too difficult and are positive to the possibilities of precision medicine, they want to talk to the physician and they want their meeting to influence the decisions. Perhaps treatment in an important sense begins even before the treatment decision is made, when the patient first meets the physician and they begin to find their way together through the hospital corridors. Corresponding meaningful encounters were never experienced by the characters in Kafka’s novels.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Åsa Grauman, Mika Kontro, Karl Haller, et al. Personalizing precision medicine: Patients with AML perceptions about treatment decisions. Patient Education and Counseling 115, 2023, https://doi.org/10.1016/j.pec.2023.107883

This post in Swedish

In dialogue with patients