Lauren Kerzin-Storrar

The University of Manchester · Centre for Genetic Medicine

To date, NIPT in the UK has been predominately used in the health service for early sexing of pregnancies at known risk of sex-linked conditions. Developments in the technology are broadening its use to diagnostic testing for paternally inherited genetic conditions and for detection of aneuploidy. This study aimed to examine the experiences of UK g...

While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less is known about the impact on young people (<25 years) who have had predictive testing often many years before the likely onset of symptoms. We looked at the experiences of young people who had had predict...

Although the professional title 'genetic counsellor' has wide international recognition, formal courses or training programmes in genetic counselling exist in only a small number of countries. In 2002, voluntary registration of genetic counsellors in the UK began under the auspices of the Genetic Counsellor Registration Board. Practitioners are eli...

Following national guidance on management of sudden unexplained death (SUD) in the young, inherited cardiac conditions (ICC) clinics were established to identify and treat relatives thought to be at increased risk. Studies have examined diagnostic yield of these clinics but outcome of clinical management has not been reported. Observational outcome...

IntroductionFollowing National Service Framework guidance on the management of sudden cardiac death (SCD), regional inherited cardiac conditions clinics were established to identify and treat those at increased risk of dying from an arrhythmic condition. Studies have examined the yield of different diagnostic strategies but the outcome of managemen...

In many cases, X-linked conditions are transmitted through families "silently" until the first affected individual is diagnosed. Grandmothers are often then tested to help determine the risk to other family members. To date, psychosocial research on carriers of X-linked conditions has focused primarily on mothers and sisters of affected males. In t...

The explanation of Mendelian inheritance is a key component of most genetic counselling consultations, yet no evidence base exists for this area of practice. This qualitative study used Interpersonal Process Recall (IPR) to explore how information about X-linked inheritance is provided and received in genetic counseling. Twelve consultations involv...

Without Abstract

The term ‘genetic registers’ has been used to describe a range of entities, including databases of research cases and samples, sources of epidemiological data and clinical record systems; however, the current usage refers to a genetic service that proactively offers genetic counseling and long-term follow-up to extended families affected by specifi...

Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. We report...

Genetic register services incorporating long term follow up and a proactive approach to at risk subjects have been recommended as a way of improving access to genetic counselling for families with dominant or X linked genetic disorders and chromosome translocations. The aims of the present study were to evaluate the psychosocial benefits and drawba...

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relativ...

This study describes the development and evaluation of a multi-item scale for analyzing the genetic counseling process, the Manchester Observation Code (MOC) for genetic counseling. The instrument is specific to the field of genetic counseling and is designed for analysis of the communication between counselor and client. Coding is done directly fr...

This study describes the development and evaluation of a multi‐item scale for analyzing the genetic counseling process, the Manchester Observation Code (MOC) for genetic counseling. The instrument is specific to the field of genetic counseling and is designed for analysis of the communication between counselor and client. Coding is done directly fr...

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophospha...

Genetic nurses and counsellors work as part of the professional team providing clinical genetic services from regional centres in the United Kingdom. The education and training needs of genetic nurses and counsellors have not previously been formally identified. The guidelines presented have been devised to equip practitioners to fulfil their profe...

In 1992 a course leading to a master of science degree in genetic counselling was established at the University of Manchester. The course aims to provide training for non medical genetic counsellors to work alongside medical geneticists in regional genetic services. The course runs over 2 years and includes taught modules, practical experience, and...

Multiple congenital anomalies (MCA) occur in around 1% of livebirths, and many of these babies are referred to the genetic clinic for a dysmorphology opinion. While some babies will have a pattern of abnormalities which enable the dysmorphologist to make a syndrome diagnosis, it has been suggested that as many as 80% remain undiagnosed. Accurate sy...

An approach to teaching counselling skills to clinical geneticists and non-medical co-workers has evolved from our experience of running courses for both groups. We offer a two year Masters degree course (MSc) in genetic counselling aimed at nursing and other graduates, and a short residential workshop for doctors training in clinical genetics. The...

Eighty-one subjects (56 affected patients and 25 parents of isolated affected cases) from 63 families with neurofibromatosis type 1 (NF1) on the North Western Regional Genetic Family Register (NWRGFR) were interviewed. Patients were interviewed either before (n = 26) or after (n = 55) genetic counselling. In the group as a whole, knowledge of the c...

As the range of prenatal tests becomes wider due to technological advances, and the number of women offered tests increases, so does the need for appropriate counselling provision. The ascertainment and counselling of those at high risk, as well as counselling of all pregnant women offered prenatal screening tests, must be addressed. Care for coupl...

One hundred and ninety subjects from 100 adult polycystic kidney disease (APKD) families on the North Western Regional Genetic Register were interviewed to determine the likely demand for prenatal diagnosis. A detailed questionnaire was used to assess understanding and experience of clinical, therapeutic, and genetic aspects of APKD. Major features...

Predictive testing by means of gene probes was offered to 110 adults at risk of Huntington's disease (HD). A further 91 individuals spontaneously sought predictive testing. Acceptance rates were highest (85.1%) amongst 47 individuals who spontaneously sought testing and were referred from outside the region, and lowest (15.5%) among the 110 invited...

We studied forty-four patients with myasthenia gravis (MG) and their families. Thirty percent of patients had a confirmed family history of autoimmune disease; in one case this was MG. In all the families with autoimmune disease, the affected relatives were related to the patients through the maternal line. HLA-B8 and DR3 were increased in patients...

A three generation family with orofaciodigital syndrome type I is described. Several family members had been thought to suffer from autosomal dominant polycystic kidney disease but examination of the proband led to establishment of the correct diagnosis. The genetic implications for the offspring of the affected women and other family members were...

A total of 102 families with Duchenne muscular dystrophy has been studied with linked DNA polymorphisms as an aid to estimating carrier risks for female relatives. Early work using probes RC8, L1.28, and pXUT23 gave very little clinically useful information because of the high recombination rates between these probes and Duchenne muscular dystrophy...

The family histories of 131 patients with histologically defined Hodgkin's disease (HD) were studied and 2,517 first and second degree relatives and spouses were identified and followed-up. The causes of death in deceased relatives were ascertained from death certificates. The numbers of deaths from selected causes were compared with the numbers th...