An innovative post in Clinical Genetics and General Practice

Samuel Edwards is a GPST1 in Leeds with an interest in sports and exercise medicine.

Judith Hayward is a GP with a specialist interest in clinical genomics.

In august 2020 I started general practice training in Leeds. My first post of GPST1 was a first nationally. An innovative post in Clinical Genetics and General Practice may initially seem like a strange combination but I can confidently say this rotation has developed many skills that are crucial in any GP.

How does it work?

I have four clinical sessions a week for each of the clinical commitments as well as weekly GPST teaching, practice meetings, and self-directed study time, which makes up the remaining two sessions.

In primary care I see patients as any other GPST would. In genetics, it is quite a different scenario. I have a clinic every Tuesday morning, this varies each week but includes sessions with: a senior genetic counsellor, a GP with a special interest in genetics, and a paediatric clinic with a consultant geneticist. The other sessions in genetics involve multidisciplinary team (MDT) meetings, preparing for upcoming clinics, audit, following up on test results, and writing letters to patients and other specialties.

Here are a few highlights:

• Seeing an undiagnosed child who had multiple clinical features of Marfan syndrome, including: arachnodactyly, long wingspan, hypermobile joints, flat feet, and a positive Walker-Murdoch sign.

• Counselling individuals on familial cancer risks. Covering all aspects from family history, known pathogenic variants, suspected familial cancer syndromes, and diagnostic and predictive testing. Counselling them on the inheritance pattern, other cancers implicated, testing, screening, and the possible consequences for close family members.

• Genetic counsellor sessions often involved rarer conditions. Some of these included: Huntington’s disease, MDR3, hereditary sensory and autonomic neuropathy type 1a, cystic fibrosis, cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders, Beckers muscular dystrophy, hereditary spastic paraparesis, and Trisomy conditions, to name a few. The most interesting cases were commonly autosomal recessive conditions, which were frequently associated with consanguinity within the family tree. In these sessions I would try to add a clinical perspective so patients might know when to contact their GP or specialist.

• I audited the incidence and prevalence of familial hypercholesterolaemia in my practice. We were significantly under-identifying cases, a theme nationally. I held education sessions for the practice as well as focused clinical sessions with high-risk patients, ultimately increasing the number of referrals for FH genetic testing.

Skills and attributes relevant to GP:

Genetic testing is currently being expanded. The ‘mainstreaming of genomics’ means that in future many conditions may be diagnosed outside of clinical genetics and so GPs will encounter genetic conditions more. Focused research of conditions and high-quality resources are crucial cornerstones of these consultations. I can confidently explain the basic principles of inheritance and genetic mutations to patients in simple terms. This will be highly beneficial in a time pressured GP setting.

Sessions in genetics further develop your ability to explain complex medical concepts to patients in a way they will understand. Breaking bad news and subsequent counselling is yet another crucial skill for GPs.

With mainstreaming of genomics we in primary care may find ourselves more frequently presented with these difficult scenarios.

Regular MDT meetings for the prenatal and foetal medicine teams have developed my knowledge of prenatal testing, non-invasive prenatal testing, genetic testing in pregnancy, and important timeframes during pregnancy to investigate and intervene, if appropriate.

One must carefully explore an individual’s family history, finding key information that correlates to the condition but also documenting this accurately. Identifying crucial individuals is much easier when drawing a pedigree and helps relate it back to the patient in future discussions.

In genetics, complex ethical discussions are a daily occurrence. Commonly pertaining to: confidentially, best interests, patient autonomy, DNA storage, and the implications of genetic results and subsequent lifestyle consequences for the patient. With mainstreaming of genomics we in primary care may find ourselves more frequently presented with these difficult scenarios.

Despite reduced face-to-face clinic time due to COVID-19, I still feel there were multiple merits to this rotation. I have since encountered patients in general practice with genetic concerns, I believe I am able to provide a much more complete service to these individuals.

I would recommend it for innovative GPST posts because I believe it will provide a wider community of GPs in the future with clinical experience of genetics. This will hopefully improve information sharing with the genetics service, streamlining the patient pathway and improving patient outcomes.


Featured image by Johann Siemens on Unsplash

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