Genetica clinica

Consultul genetic

 Genetic counselling is the process through which

knowledge about the genetic aspects of illnesses is shared
by trained professionals with those who are at an increased
risk or either having a heritable disorder or of passing it on
to their unborn offspring.
Consultul genetic

 A genetic counsellor provides information on the inheritance of

illnesses and their recurrence risks; addresses the concerns of
patients, their families, and their health care providers;
 and supports patients and their families dealing with these
illnesses .
 The Heredity Clinic was the first genetic counselling service
centre established in 1940 at the University of Michigan, USA.
Since then the many such centres have been opened around the
world.
Consultul genetic-WHO

 Over the years, the role of a genetic counsellor has evolved from
simply drawing pedigrees in an attempt to help clarify the genetic
components of diseases and birth defects,
 to the present non-directive approach, requiring counsellors to
provide information and feedback to patients on the inheritance or
risk of inheriting illness.
 With the mapping of the human genome project in 2001 the role of
genetic counselling has increased further both in scope and
importance.
Consultul genetic

 Este un act medical care stabileste:

 Diagnosticul unei boli
 Natura/component genetica
 Transmiterea aceste informatii bolnavului si familiei sale.

 Primul obiectiv este realizarea unui diagnostic clinic cat mai

precis, desi dificil este necesar, deoarece influenteaza direct
prognosticul, prevenirea complicatiilor si corectitudinea evaluarii
riscului de recurenta.
Indicatiile consultului genetic
 Persoana bolnava cu o posibila boala genetica sau
anomalie congenitala,
 Persoana sanatoasa dar cu risc genetic crescut (are o ruda
apropiata afectata)
 Inaintea diagnosticului prenatal-avantaje si limite
 Antecedente de avorturi spontane/nou nascuti cu
malformatii
 Infertilitatea
 Istoric de cancere familiale.
Dismorfologia
 Dismorfologia(studiul morfologiei umane anormale) este
domeniul care se ocupa cu recunoasterea si diagnosticul
unor sindroame specific la pacientii cu anomalii
congenitale multiple, majore si/sau minore.

 Dismorfiile sunt forme anormale , asadar defecte

structurale care nu se regasesc la persone de aceeasi
varsta, etnie sau familie.

 Sindroamele dismorfice sunt entitati clinice distincte

caracterizate printr-o combinatie specifica de caractere
structurale care au o cauza sau un mecanism comun.
The circumstances of the individual
genetic test — including the acute nature
of the phenotype, the age of the patient,
family history and specimen availability —
guide the selection of tests and test
platforms.
Molecular genetic testing
 Genetic testing has grown from a niche speciality
for rare disorders to a broad scope of
applications for complex disease and personal
use.
 Applications of clinical genetic testing span
medical disciplines, including: newborn screening
for highly penetrant disorders; diagnostic and
carrier testing for inherited disorders; predictive
and pre-symptomatic testing for adult-onset and
complex disorders; and pharmacogenetic testing
to guide individual drug dosage, selection and
response.
Prader Willi
 There is no cure, but ongoing therapy can help to
reduce symptoms by focusing on related
deficiencies. Approaches include nutrition,
growth, and sex hormone therapy, physical,
speech, occupational, and developmental therapy.
 Nutrition therapy can supply an infant with
feeding difficulties with a high-calorie formula.
Weight and growth are monitored, and a
nutritionist may assist in developing a healthy,
low-calorie, weight-control diet. People with PWS
must follow a very strict diet with lower calorie
goals than usual for the age group. Physical
barriers to obtaining food may be necessary, such
as locking food away.
PWS

 Growth hormone treatment can help increase growth and

reduce body fat, but the long-term effects are unclear.
 Sex hormone treatment, such as hormone replacement
therapy (HRT), can top up testosterone for boys
and progesterone for girls. This helps with sexual
development and can reduce the risk of osteoporosis.
 Other treatments include developmental therapy, to
encourage age-appropriate social and interpersonal skills,
occupational therapy to help with routine tasks, physical
therapy, and speech therapy.
Sindromul Angelman
The above
image shows
an average
face taking
on the
average
facial
features of
eight rare
genetic
disorders that
have been
built from a
growing bank
of
photographs
of people
diagnosed
with different
syndromes.
Image credit:
Christoffer
Nellåker/Oxfo
rd University
ADPKD/ARPKD
ADPKD: 1/400-1/1000

A cyst in the kidney begins as an outpouching

of the nephron, similar to a blister, and can
occur any where along the length of the
nephron. The fluid inside the cysts often
reflects the area in the nephron that the cyst
began.
Approximately 70 percent of cysts detach
from the nephron once they reach 2 mm (1/8
inch) in diameter. Over time, the cysts enlarge
and can become filled with clear fluid or
blood. Cysts can also form in other organs,
with the liver being the most common site.
 Mutations of the PKD1 or PKD2 gene reduce the normal level of
polycystins, which regulate many important tubular cell functions.
Recent research has highlighted a central defect in PKD related to
dysregulation of calcium levels and a signalling molecule called
cyclic AMP (cAMP) within the cells that form tubules in the
kidneys and other target organs. These abnormalities in turn can
lead to cyst formation through at least three important
mechanisms:

 Cell proliferation (growth) – the cells lining a cyst reproduce

themselves more than normal kidney cells do, making them grow
in size. This process is essential to growth and replacement of the
old cells.
 Fluid secretion – the lining cells secret fluid into the empty sac
which expands the cyst. Without fluid secretion a cyst would
collapse like a deflated balloon.
 Kidney cyst formation
ARPKD
 ARPKD is caused by a
mutation in chromosome 6
(PKHD1 gene). In recessive
disorders such as ARPKD,
the child must inherit a copy
of the PKHD1 gene from
each parent. Since the
parents each have only one
copy of the disease gene,
they do not have the disease
and are referred to as
“carriers.” Parents carrying
the mutated PKHD1 gene
have a 25 percent chance
that each child will have
ARPKD.