Identity in Postgenomic Times: Epigenetic Knowledge and the Pursuit of Biological Origins

As genetic knowledge continues to strengthen notions of identity in Euro-American societies and beyond, epigenetic knowledge is intervening in these legitimation frameworks. I explore these interventions in the realm of assisted reproduction—including adoption, donor conception, and gestational surrogacy. The right to identity is protected legally in many states and receives due attention in public and private international law. Originating from the context of adoption, donor-conceived and surrogacy-born persons have recently demanded the same protections and focused on the right to genetic knowledge. This article explores possible implications of epigenetic knowledge on identity. I start by articulating the deep influence of genetics on the notion of identity, and how this unfolds in legal contexts. Next, I examine how epigenetic findings that stress the importance of seeing biological life as situated and embedded in environments can challenge how adoption, donor conception, and gestational surrogacy are experienced and understood. While I argue that epigenetic knowledge can reify identity with the same determinism underpinning genetics, it can also allow for more biosocial understandings of identity that consider history and experience as entangled with biology.

A mikroorganizmusok patogenitása és virulenciája: definíciók, példázatok és molekuláris háttérismeretek

Összefoglaló. A fertőző betegségek kóroki hátterének felderítésére irányuló törekvések hosszú időre tekintenek vissza. Fogalmakkal és követelményekkel (posztulátumokkal) igyekeztek körülírni, hogy egy mikroorganizmus mikor tekinthető egy adott fertőző betegség okozójának. Egy patogén rendszertani kategóriába tartozó mikroorganizmus kimutatása a betegből önmagában még nem elegendő bizonyíték arra, hogy a betegségnek valóban az a kórokozója. Igazolni kell a továbbiakban, hogy rendelkezik azokkal a virulenciafaktoroknak nevezett tényezőkkel, amelyek valójában képessé teszik az adott betegség kiváltására. Robert Koch idejében csak fenotípusos ismeretek álltak rendelkezésre, azok figyelembevételével fogalmazta meg posztulátumait. Később, a megszerzett molekuláris ismeretek birtokában, a posztulátumokat molekuláris szinten is értelmezték. A beteg személyét biológiai, szociális és pszichés egységként kezelő holisztikus megközelítésnek is eleget téve, a posztulátumokat a kórokozó mellett az esetben érintett gazdaszervezet egyedi tulajdonságainak figyelembevételével tovább szélesítették. A dolgozat a fenti kérdéseket példákkal illusztrálva tárgyalja, majd kitér a gyakorlati hasznosítás lehetőségeire. Orv Hetil. 2021; 162(50): 1991–1999. Summary. Efforts to explore the casual background of infectious diseases have been ambitioned for a long time. Terms and requirements (postulates) have been created to describe in which case a microorganism can be regarded as a causative agent of a given infectious disease. Demonstration of a representative of a pathogenic taxonomic category in the patient, however, does not prove its causative role in itself. It should also be verified if the microbe possesses the so-called virulence factors enabling it to trigger the given disease. At the time when Robert Koch formulated his postulates, only phenotypic characters were at his disposal. Later, in possession of a substantial genetic knowledge, the postulates have been adapted to molecular level. For having a holistic approach, the postulates have been extended also to the host’s individual biological, social and psychological attributes. This paper discusses the above issues with examples for illustration, and outlines their practical applicabilities. Orv Hetil. 2021; 162(50): 1991–1999.

Familiarity and genetic literacy among medical students in Indonesia

Background There is a lack of genetic knowledge among health care professionals especially in some developing countries such as Indonesia. Based on our experience, genetic disorders receive less attention in medical education and professionals. This study aims to determine the familiarity and literacy of genetics among medical students in Indonesia. Methods A total of 1003 Indonesian medical (pre-clinical and clinical) students completed the Rapid Estimate of Adult Literacy in Genetics (REAL-G) questionnaire with a total score of seven for familiarity and eight for genetic literacy. The Mann-Whitney U test was used to compare the familiarity and genetic literacy scores between pre-clinical and clinical students. Results The average scores of familiarity and genetic literacy were 5.63 ± 0.96 and 6.37 ± 0.83, respectively. Genetic familiarity was higher (p = 0.043) among clinical students than pre-clinical students, while there was no significant difference in genetic literacy (p = 0.362) between pre-clinical and clinical students. Genetic familiarity does not impact the level of genetic literacy. However, medical students’ genetic literacy is influenced by demographic characteristics, such as age, sex, university type, genetic learning experience, university accreditation, and university location. Conclusions In general, Indonesian medical students have relatively good familiarity and literacy in genetics although further study is necessary to accurately measure the genetic familiarity and literacy in medical students and general public.

The Bionormative Prejudice

This chapter presents, and responds to, an objection to the Significant Interest view which claims that people’s interest in acquiring genetic knowledge is not worthwhile because it is insidiously morally problematic. What makes it insidiously morally problematic, according to this objection, is that the interest in genetic knowledge both reflects and further entrenches bionormative prejudice, i.e. a form of prejudice which maintains that the ideal family is one where parents are genetically related to their children. The author responds by showing that even though bionormative prejudice is prevalent in society, it does not undermine the value of people’s interest in genetic knowledge.

The Significant Interest View

This chapter presents the Significant Interest view, which aims to show that people who intend to conceive a child with donated gametes have a weighty reason to use an open donor. According to the Significant Interest view, the fact that a donor-conceived person is likely to be very interested in acquiring genetic knowledge gives intended parents a weighty reason to use an open donor. This is because parents ought to promote their children’s well-being by helping satisfy their child’s worthwhile significant interests, and a donor-conceived person’s interest in genetic knowledge is one such interest. This chapter explains what it means for an interest to be significant and worthwhile, the role that parents can legitimately play in shaping a child’s significant interests, and what the connection is between a person’s well-being and the satisfaction of their significant interests.

Conceiving People

Each year, tens of thousands of children are conceived with donated sperm or eggs, aka donated gametes. By some estimates, there are over 1 million donor-conceived people in the United States and, of course, many more the world over. Some know they are donor-conceived. Some don’t. Some know the identity of their donors. Others never will. Conceiving People: Identity, Genetics and Gamete Donation argues that people who plan to create a child with donated gametes should choose a donor whose identity will be made available to the resulting child. This is not because having genetic knowledge is fundamentally important. Rather, it is because donor-conceived people are likely to develop a significant interest in having genetic knowledge and parents must help satisfy their children’s significant interests. In other words: because a donor-conceived person is likely to care about having genetic knowledge, their parents should care too. Questions about what the donor-conceived should know about their genetic progenitors are hugely significant for literally millions of people, including donor-conceived people, their parents, and donors. But the practice of gamete donation also provides a vivid occasion for thinking about questions that matter to everyone. What value, if any, is there in knowing who your genetic progenitors are? To what extent are our identities bound up with knowing where we come from? What obligations do parents have to their children? And what makes someone a parent—the person responsible for lovingly raising a child—in the first place?

The Value of Genetic Knowledge

This chapter vindicates the claim that donor-conceived people’s interest in acquiring genetic knowledge is worthwhile by offering an account of the value of genetic knowledge. The author develops and defends a view called “genetic pluralism” according to which having genetic knowledge can, but need not, play a central role in the task of identity determination. In this way, having genetic knowledge is prudentially optional. The author explains the task of identity determination in terms of answering the question “Who am I?,” which is, in turn, unpacked in terms of three other questions: “How did I come to be?,” “What am I like?,” and “Who am I like?” The author shows how having genetic knowledge can—but need not—play a role in answering each of these questions.

Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong

Background The global development and advancement of genomic medicine in the recent decade has accelerated the implementation of personalized medicine (PM) and pharmacogenomics (PGx) into clinical practice, while catalyzing the emergence of genetic testing (GT) with relevant ethical, legal, and social implications (ELSI). Results The perception of university undergraduates with regards to PM and PGx was investigated, and 80% of undergraduates valued PM as a promising healthcare model with 66% indicating awareness of personal genome testing companies. When asked about the curriculum design towards PM and PGx, compared to undergraduates in non-medically related curriculum, those studying in medically related curriculum had an adjusted 7.2 odds of perceiving that their curriculum was well-designed for learning PGx (95% CI 3.6–14.6) and a 3.7 odds of perceiving that PGx was important in their study (95% CI 2.0–6.8). Despite this, only 16% of medically related curriculum undergraduates would consider embarking on future education on PM. When asked about their perceptions on GT, 60% rated their genetic knowledge as “School Biology” level or below while 76% would consider undergoing a genetic test. As for ELSI, 75% of undergraduates perceived that they were aware of ethical issues of GT in general, particularly on “Patient Privacy” (80%) and “Data Confidentiality” (68%). Undergraduates were also asked about their perceived reaction upon receiving an unfavorable result from GT, and over half of the participants perceived that they would feel “helpless or pessimistic” (56%), “inadequate or different” (59%), and “disadvantaged at job seeking” (59%), while older undergraduates had an adjusted 2.0 odds of holding the latter opinion (95% CI 1.1–3.5), compared to younger undergraduates. Conclusion Hong Kong undergraduates showed a high awareness of PM but insufficient genetic knowledge and low interest in pursuing a career towards PM. They were generally aware of ethical issues of GT and especially concerned about patient privacy and data confidentiality. There was a predominance of pessimistic views towards unfavorable testing results. This study calls for the attention to evaluate education and talent development on genomics, and update existing legal frameworks on genetic testing in Hong Kong.