Stigma: an inherited blame

It was an ordinary day at the genetics outpatient department (OPD). Among the many families attending the clinic was Mr. and Mrs. S, accompanied by their two children. As a second-year genetic counselling student, my role involved taking detailed family and medical histories, which would later be followed by consultation and clinical examination by the clinical geneticist.

The couple, a traditional South Indian Hindu pair in their early forties, reported a non-consanguineous marriage. They themselves had no significant health concerns, but their two daughters, aged 16 and 14 years, had longstanding cognitive impairment and noticeable dysmorphic features. During history-taking, it was Mr. S who answered most questions. His responses were brief, emotionally flat, and detached, a demeanour not uncommon among fathers in clinical settings in India. Mrs. S, in contrast, provided detailed accounts of the children’s developmental history. Both girls had significant global developmental delay. They sat without support at approximately four years of age, walked independently by five years, and had markedly delayed speech with limited expressive language at the time of evaluation.

On clinical examination, the children were noted to have severe microcephaly, facial dysmorphism, joint laxity, and global developmental delay. There was no history of seizures or behavioural abnormalities.

The family had previously consulted multiple doctors near their village in Karnataka, as evidenced by extensive medical records including blood investigations and brain MRI scans. Despite this, they had received no definitive diagnosis. Mrs. S appeared hopeful that the visit to our clinic might finally provide answers, particularly regarding the possibility of treatment.

Following evaluation, the clinical geneticist recommended several investigations, including exome sequencing (ES). Pre-test counselling proceeded routinely, followed by informed consent and blood sampling from both children.

When the family returned a few weeks later for post-test counselling, the results revealed that both children carried the same homozygous truncating variant in the VPS13B gene, consistent with Cohen syndrome. The diagnosis was explained carefully, including the concept of autosomal recessive inheritance and the fact that both parents were likely asymptomatic carriers. It was also clarified that while no curative treatment exists, genetic testing could be offered in future pregnancies for prenatal diagnosis.

Until this point, Mrs. S had listened intently. On hearing the explanation, she suddenly broke down. After a brief pause, she spoke about years of blame, by her extended family, by society, and eventually by herself. She revealed that her husband had left her and their children and had remarried, a fact not disclosed during earlier consultations. She added that Mr. S believed the children’s condition was her fault, attributing it to her having “bad blood.”

Multiple studies have revealed how blame is often directed toward mothers for giving birth to children with abnormalities, with women being held personally responsible for “spoiling” the family line or bringing misfortune upon the family (Davis and Manago 2016; Joseph et al. 2017; Kar 2021). In several Indian communities, women are told that the “sins” of a past life have resulted in the birth of a child with an abnormality, and husbands have sought divorce believing the same (Joseph et al., 2014). Within arranged marriage systems, particularly, although not exclusively in rural India, women are expected to uphold gendered norms of reproduction and ensure the birth of healthy children. A physical or mental disability, or even a “family history” of illness, is often ostracized. A study revealed that Indian women affected by genetic disorders such as sickle cell disease often avoid disclosing their condition to potential partners due to fears of stigma, prejudice, and rejection (Nadimpally et al. 2024). These beliefs bring up longstanding cultural idioms of khoon (blood), nasl (lineage), and khandaan (family), where genetic conditions are framed as “bad blood” or a tainted lineage, which position women as carriers of family purity and values, thereby intensifying blame, guilt, and stigma.

At that moment, stigma revealed itself not as an abstract concept, but as a lived reality. Stigma exposes the mindset of those who enforce it, but the burden is borne entirely by the one who must endure it. This creates a deeply lopsided power dynamic. The person at the receiving end has no agency in the matter, not because of choices they made, but because of circumstances they were born into. To call such stigma unfair is not merely accurate, it is an understatement.

Throughout this disclosure, Mr. S avoided eye contact, his gaze fixed downward. He remained largely silent. Whether his silence reflected guilt, shame, denial, or indifference remains unknowable. What was evident, however, was the imbalance of consequence. Mrs. S had assumed sole responsibility for raising two children with disabilities, a role that is physically, emotionally, and financially demanding, compounded by sustained social blame.

As an observing genetic counselling student, maintaining emotional distance was profoundly difficult. I felt anger and frustration towards Mr. S for his apparent abandonment of responsibility and for the ease with which the burden of caregiving had been displaced onto Mrs. S. These reactions conflicted sharply with the ethical principles fundamental to genetic counselling, particularly non-judgement and respect for autonomy.

Such encounters are not isolated. As geneticists and genetic counsellors, we routinely witness stigma operating within outpatient clinics, particularly in low- and middle-income countries. Women continue to bear a disproportionate share of blame for genetic conditions, despite having no greater biological responsibility for inheritance than men. This inequity is sustained by misinformation, fragmented understanding of genetics transmitted through cultural narratives, and deeply entrenched patriarchal structures that continue to position women as morally and biologically culpable.

With time and reflection, I have come to recognise the value of encountering such ethically challenging situations early in my training. It pushed me to understand the ethical foundations of genetic counselling.

This raises a critical question. How should geneticists and genetic counselling professionals navigate situations where personal values conflict with professional responsibilities?

The answer lies in self-awareness, reflective practice, and unwavering respect for patient autonomy. The National Society of Genetic Counselors (NSGC) Code of Ethics emphasises respect for clients’ beliefs, values, family relationships, and life circumstances, and supports informed decision-making free of coercion (National Society of Genetic Counselors 2018). Carl Rogers’ person-centred approach, grounded in empathy and unconditional positive regard, forms the psychological backbone of modern genetic counselling practice (Marks 1993).

Patient autonomy remains central to genetic counselling, particularly given the emotional and ethical complexity surrounding reproductive decisions, chronic genetic conditions, and caregiving responsibilities (Jamal et al. 2020). These principles reflect the broader ethical pillars of autonomy, beneficence, non-maleficence, and justice.

As genetic counsellors, it is essential to reflect continuously on our own responses, acknowledge personal biases, and seek supervision or peer discussion when needed. The challenge is not to suppress our humanity, but to integrate it thoughtfully, striking a balance between professionalism and compassion, grounded in deep empathy and respect for individual autonomy.

Author contributions

AS conceptualized the study. AS and PK jointly drafted, edited, and proofread the article.

Funding

There is no funding to disclose.

Data availability

No datasets were generated or analysed during the current study.

Declarations

Competing interests

The authors declare no competing interests.